ClinVar Miner

List of variants reported as likely pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome by Invitae

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Total variants: 28
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HGVS dbSNP
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.5628611_5634201del
NC_000004.12:g.5752871_5756875del
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.229-1G>T rs1214848359
NM_147127.5(EVC2):c.229-2A>G rs769799880
NM_147127.5(EVC2):c.2830-1G>T rs1553818428
NM_147127.5(EVC2):c.3273-2del
NM_147127.5(EVC2):c.3361-2A>G
NM_147127.5(EVC2):c.3659+2T>C rs200300612
NM_147127.5(EVC2):c.450+2T>C rs781096099
NM_147127.5(EVC2):c.451-1_452del
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_153717.3(EVC):c.153_174+42del
NM_153717.3(EVC):c.1777-1G>A rs1262933856
NM_153717.3(EVC):c.1886+1G>C
NM_153717.3(EVC):c.1886+2T>G
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.2098-2A>G
NM_153717.3(EVC):c.2562-2A>G rs1293098417
NM_153717.3(EVC):c.2562-3_2584del rs1577663625
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_153717.3(EVC):c.617+1G>A
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.703-1G>C
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.939+1G>A

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