ClinVar Miner

List of variants studied for congenital anomaly of cardiovascular system by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (334):
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ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) rs145789868 0.00014
NM_001106.4(ACVR2B):c.527C>G (p.Pro176Arg) rs35882617 0.00013
NM_021785.6(RAI2):c.712G>A (p.Val238Ile) rs1208705303 0.00010
NM_001271874.2(AAR2):c.520G>A (p.Val174Met) rs746800707 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NC_000023.10:g.36649710_136649711del100000002insG
NM_001012426.2(FOXP4):c.815del (p.Leu272fs) rs1114167294
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001284236.3(ZFYVE16):c.1798G>A (p.Asp600Asn) rs1561277007
NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala) rs1561310640
NM_002202.3(ISL1):c.766-1G>A rs1561208602
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) rs1569345504
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) rs1569345742
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) rs104894960
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) rs1203069392
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) rs122463167
NM_004850.5(ROCK2):c.3724C>T (p.Gln1242Ter) rs1558277937
NM_007192.4(SUPT16H):c.956-1G>A rs1566388186
NM_018055.5(NODAL):c.194-1G>T rs1564667617
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) rs1447874899
NM_018055.5(NODAL):c.700_707del (p.Arg234fs) rs1564667180
NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) rs1312300020
Single allele

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