ClinVar Miner

List of variants in gene PIEZO2 reported as uncertain significance for Marden-Walker syndrome

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln) rs200276831 0.00076
NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met) rs777349822 0.00003
NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met) rs1005911734 0.00001
NM_001378183.1(PIEZO2):c.3193G>C (p.Asp1065His) rs752023399
NM_001378183.1(PIEZO2):c.3358T>C (p.Phe1120Leu)
NM_001378183.1(PIEZO2):c.605G>T (p.Arg202Leu) rs760374118
NM_001378183.1(PIEZO2):c.7604T>C (p.Phe2535Ser)
NM_001378183.1(PIEZO2):c.8173A>G (p.Met2725Val)

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