ClinVar Miner

List of variants reported as likely pathogenic for conotruncal heart malformations

Included ClinVar conditions (20):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2113+1G>A rs1294950721 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) rs1017845770 0.00001
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) rs1431830142 0.00001
GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1
NC_012920.1:m.6887_6888insGGG rs1569484120
NM_000214.3(JAG1):c.138dup (p.Gly47fs)
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
NM_000214.3(JAG1):c.311del (p.Gly104fs) rs886041782
NM_001018005.2(TPM1):c.114+2T>C rs1114167357
NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu) rs267606914
NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs) rs757292066
NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001379200.1(TBX1):c.437+1G>C
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro) rs1936727304
NM_002253.4(KDR):c.2614+1G>A
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) rs864321649
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) rs587784067
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) rs1057515420
NM_005257.6(GATA6):c.1135+2T>C

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