ClinVar Miner

List of variants in gene NKX2-6 reported as likely benign for congenital heart disease

Included ClinVar conditions (290):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001136271.3(NKX2-6):c.150G>T (p.Pro50=) rs550727329 0.00035
NM_001136271.3(NKX2-6):c.444G>A (p.Glu148=) rs552633150 0.00018
NM_001136271.3(NKX2-6):c.468C>T (p.Tyr156=) rs750361656 0.00013
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=) rs768775204 0.00008
NM_001136271.3(NKX2-6):c.341A>G (p.Asn114Ser) rs751485832 0.00008
NM_001136271.3(NKX2-6):c.180C>T (p.Gly60=) rs1356335573 0.00001
NM_001136271.3(NKX2-6):c.156G>T (p.Gly52=)
NM_001136271.3(NKX2-6):c.196A>C (p.Lys66Gln) rs545394251
NM_001136271.3(NKX2-6):c.291G>A (p.Ala97=)
NM_001136271.3(NKX2-6):c.29C>G (p.Pro10Arg) rs747477274
NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro) rs61743032
NM_001136271.3(NKX2-6):c.368G>A (p.Arg123His) rs568127693
NM_001136271.3(NKX2-6):c.381C>G (p.Pro127=)
NM_001136271.3(NKX2-6):c.516G>A (p.Thr172=) rs2117594368
NM_001136271.3(NKX2-6):c.67C>A (p.Arg23=)
NM_001136271.3(NKX2-6):c.771C>G (p.Gly257=) rs773766949
NM_001136271.3(NKX2-6):c.771C>T (p.Gly257=)
NM_001136271.3(NKX2-6):c.780C>T (p.Tyr260=)
NM_001136271.3(NKX2-6):c.801T>C (p.Pro267=)
NM_001136271.3(NKX2-6):c.867C>T (p.Gly289=) rs1554510734

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