ClinVar Miner

List of variants reported as pathogenic for conotruncal heart malformations

Included ClinVar conditions (20):
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ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424 0.00021
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr) rs121434423 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
GRCh37/hg19 8p23.1(chr8:8403375-11805960)
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)
NC_012920.1(MT-CO1):m.5954del rs1569484042
NC_012920.1(MT-CO1):m.6902del rs1569484122
NC_012920.1(MT-CO1):m.6927del rs1569484124
NC_012920.1(MT-CO1):m.6941del rs1569484126
NC_012920.1(MT-CO2):m.7639del rs1569484164
NC_012920.1:m.9273_9274insATC rs1569484288
NC_012920.1:m.9429_9430insCCC rs1569484299
NC_012920.1:m.9441_9442insTTT rs1569484301
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.1794_1797del (p.Cys599fs)
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.228del (p.Val77fs) rs2067506937
NM_000214.3(JAG1):c.2472C>A (p.Cys824Ter)
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) rs2067268275
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu) rs267606914
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001379200.1(TBX1):c.1250del (p.Ser417fs) rs1601294362
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs746335599
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) rs28939675
NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)
NM_004387.4(NKX2-5):c.439del (p.Gln147fs) rs1761360431
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_005257.6(GATA6):c.1396A>C (p.Asn466His) rs387906813
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) rs1598737972
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter) rs2033033528
NM_005257.6(GATA6):c.729_730del (p.Gly244fs)
NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu) rs397514521
NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met) rs397514520
NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp) rs774966208
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) rs1554034812

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