ClinVar Miner

List of variants studied for conotruncal heart malformations by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=) rs61732911 0.17325
NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu) rs143039156 0.02484
NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=) rs61749320 0.01783
NM_001136271.3(NKX2-6):c.183C>T (p.Gly61=) rs139466287 0.00769
NM_001136271.3(NKX2-6):c.121T>A (p.Phe41Ile) rs576577900 0.00039
NM_001136271.3(NKX2-6):c.464G>T (p.Arg155Leu) rs534202593 0.00036
NM_001136271.3(NKX2-6):c.150G>T (p.Pro50=) rs550727329 0.00035
NM_001136271.3(NKX2-6):c.895A>G (p.Arg299Gly) rs564297816 0.00029
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.593T>C (p.Leu198Pro) rs368111443 0.00012
NM_001136271.3(NKX2-6):c.171C>A (p.Asn57Lys) rs558299051 0.00011
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.274C>A (p.Gln92Lys) rs530501230 0.00007
NM_001136271.3(NKX2-6):c.649G>T (p.Gly217Cys) rs946224551 0.00004
NM_001136271.3(NKX2-6):c.673C>T (p.Pro225Ser) rs913645847 0.00004
NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His) rs916318048 0.00003
NM_001136271.3(NKX2-6):c.826G>T (p.Ala276Ser) rs959054178 0.00003
NM_001136271.3(NKX2-6):c.125A>G (p.Gln42Arg) rs1440787889 0.00001
NM_001136271.3(NKX2-6):c.180C>T (p.Gly60=) rs1356335573 0.00001
NM_001136271.3(NKX2-6):c.181G>A (p.Gly61Ser) rs774277973 0.00001
NM_001136271.3(NKX2-6):c.35C>T (p.Ser12Leu) rs1254295378 0.00001
NM_001136271.3(NKX2-6):c.434T>C (p.Leu145Pro) rs1369416257 0.00001
NM_001136271.3(NKX2-6):c.50T>C (p.Leu17Pro) rs1197285444 0.00001
NM_001136271.3(NKX2-6):c.538T>C (p.Phe180Leu) rs1165279653 0.00001
NM_001136271.3(NKX2-6):c.625G>T (p.Ala209Ser) rs941121273 0.00001
NM_001136271.3(NKX2-6):c.693C>T (p.Pro231=) rs1400122315 0.00001
NC_000008.10:g.(?_21900440)_(23564111_?)dup
NM_001136271.3(NKX2-6):c.108G>A (p.Lys36=)
NM_001136271.3(NKX2-6):c.114G>A (p.Pro38=)
NM_001136271.3(NKX2-6):c.142G>T (p.Ala48Ser)
NM_001136271.3(NKX2-6):c.156G>T (p.Gly52=)
NM_001136271.3(NKX2-6):c.168C>A (p.His56Gln) rs1801092012
NM_001136271.3(NKX2-6):c.196A>C (p.Lys66Gln) rs545394251
NM_001136271.3(NKX2-6):c.226C>T (p.Pro76Ser)
NM_001136271.3(NKX2-6):c.250G>C (p.Asp84His)
NM_001136271.3(NKX2-6):c.281G>T (p.Gly94Val) rs1801035668
NM_001136271.3(NKX2-6):c.291G>A (p.Ala97=)
NM_001136271.3(NKX2-6):c.298C>A (p.Pro100Thr)
NM_001136271.3(NKX2-6):c.29C>G (p.Pro10Arg) rs747477274
NM_001136271.3(NKX2-6):c.309C>T (p.Gly103=)
NM_001136271.3(NKX2-6):c.314C>G (p.Thr105Ser)
NM_001136271.3(NKX2-6):c.315del (p.Arg106fs)
NM_001136271.3(NKX2-6):c.340A>C (p.Asn114His)
NM_001136271.3(NKX2-6):c.340_348dup (p.Asn114_Gly116dup) rs780012501
NM_001136271.3(NKX2-6):c.349G>C (p.Asp117His)
NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro) rs61743032
NM_001136271.3(NKX2-6):c.364G>T (p.Gly122Cys) rs772831506
NM_001136271.3(NKX2-6):c.367C>G (p.Arg123Gly) rs1451266541
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.415T>C (p.Phe139Leu)
NM_001136271.3(NKX2-6):c.429G>A (p.Gln143=)
NM_001136271.3(NKX2-6):c.446G>A (p.Arg149Gln)
NM_001136271.3(NKX2-6):c.464G>C (p.Arg155Pro) rs534202593
NM_001136271.3(NKX2-6):c.478C>T (p.Pro160Ser) rs1461236642
NM_001136271.3(NKX2-6):c.516G>A (p.Thr172=) rs2117594368
NM_001136271.3(NKX2-6):c.521C>T (p.Thr174Met)
NM_001136271.3(NKX2-6):c.543G>C (p.Gln181His) rs1801027083
NM_001136271.3(NKX2-6):c.572G>T (p.Arg191Leu)
NM_001136271.3(NKX2-6):c.614C>T (p.Pro205Leu)
NM_001136271.3(NKX2-6):c.62G>T (p.Arg21Leu)
NM_001136271.3(NKX2-6):c.632C>G (p.Pro211Arg)
NM_001136271.3(NKX2-6):c.634G>T (p.Val212Phe)
NM_001136271.3(NKX2-6):c.67C>A (p.Arg23=)
NM_001136271.3(NKX2-6):c.686C>T (p.Ala229Val) rs1563303655
NM_001136271.3(NKX2-6):c.698C>A (p.Pro233His)
NM_001136271.3(NKX2-6):c.738C>T (p.Gly246=)
NM_001136271.3(NKX2-6):c.745G>A (p.Gly249Arg) rs752427485
NM_001136271.3(NKX2-6):c.769G>C (p.Gly257Arg)
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.834C>T (p.Phe278=)
NM_001136271.3(NKX2-6):c.867C>T (p.Gly289=) rs1554510734
NM_001136271.3(NKX2-6):c.86_87insT (p.Pro30fs)

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