Total 3 pathogenic variants reported for Overhydrated hereditary stomatocytosis 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000324.3(RHAG):c.194T>C (p.Phe65Ser) SNV
Germline		 Chr6:49619326 Pathogenic Overhydrated hereditary stomatocytosis
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA213352 rs_863225468

3 SubmittersRCV000202428RCV001781607
NM_000324.3(RHAG):c.182T>G (p.Ile61Arg) SNV
Germline		 Chr6:49619338 Pathogenic Overhydrated hereditary stomatocytosis No Assertion Criteria Provided
 CA213350 rs_863225469

1 SubmittersRCV000202426
NM_000324.3(RHAG):c.447T>G (p.Ile149Met) SNV
Germline		 Chr6:49618113 Pathogenic Overhydrated hereditary stomatocytosis No Assertion Criteria Provided
 CA364401417 rs_1554174425

1 SubmittersRCV000505544