ClinVar Miner

List of variants reported as pathogenic for Tetralogy of Fallot

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Total variants: 32
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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_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_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.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.228del (p.Val77fs) rs2067506937
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) rs2067268275
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs746335599
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_005257.6(GATA6):c.23G>A (p.Trp8Ter) rs2033033528
NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp) rs774966208

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