ClinVar Miner

List of variants in gene ZSWIM6 reported as uncertain significance for acrofacial dysostosis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020928.2(ZSWIM6):c.1991T>C (p.Met664Thr) rs371478900 0.00008
NM_020928.2(ZSWIM6):c.31G>A (p.Ala11Thr) rs1038709799 0.00006
NM_020928.2(ZSWIM6):c.1781A>G (p.Asn594Ser) rs1257102056 0.00001
NM_020928.2(ZSWIM6):c.2281C>T (p.Arg761Trp) rs756935198 0.00001
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.1760G>C (p.Arg587Thr)
NM_020928.2(ZSWIM6):c.2248G>A (p.Gly750Arg)
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) rs772099709
NM_020928.2(ZSWIM6):c.683A>G (p.His228Arg) rs1747601529
NM_020928.2(ZSWIM6):c.79_96dup (p.Ser27_Gly32dup) rs1554028299

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