ClinVar Miner

List of variants studied for thrombocytopenia 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000377.3(WAS):c.223G>A (p.Val75Met) rs782290433 0.00001
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.413G>C (p.Arg138Pro) rs139265251
NM_000377.3(WAS):c.559+5G>A rs886039451

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