ClinVar Miner

List of variants studied for thrombocytopenia 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000377.3(WAS):c.1442T>A (p.Ile481Asn) rs132630276
NM_000377.3(WAS):c.167C>T (p.Ala56Val) rs132630269
NM_000377.3(WAS):c.173C>G (p.Pro58Arg) rs132630275
NM_000377.3(WAS):c.482dup (p.Pro162fs)
NM_000377.3(WAS):c.559+5G>A rs886039451
NM_000377.3(WAS):c.707C>G (p.Ala236Gly) rs132630270

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