ClinVar Miner

List of variants reported as uncertain significance for Gordon syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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.71C>T (p.Ala24Val) rs759000106 0.00002
NM_001378183.1(PIEZO2):c.3193G>T (p.Asp1065Tyr)
NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)
NM_001378183.1(PIEZO2):c.8081+7G>C rs912560415
NM_001378183.1(PIEZO2):c.8140C>T (p.Pro2714Ser)
NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu) rs2033787153

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