ClinVar Miner

List of variants reported as uncertain significance for congenital heart defects, multiple types, 4

Included ClinVar conditions (2):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_021005.4(NR2F2):c.1242A>G (p.Gln414=) rs140022547 0.00009
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) rs901462929 0.00004
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) rs1236325542 0.00002
NC_000015.9:g.(?_96875335)_(96880851_?)dup
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu) rs1474147673
NM_021005.4(NR2F2):c.1087C>A (p.Leu363Ile) rs1596432381
NM_021005.4(NR2F2):c.1094T>A (p.Leu365His)
NM_021005.4(NR2F2):c.1234G>T (p.Ala412Ser)
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg) rs1381103214
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu) rs1899174214
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg) rs2141169030
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp) rs1899253390
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp) rs1899253743
NM_021005.4(NR2F2):c.691C>A (p.Pro231Thr) rs2141169249
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter) rs878855066
NM_021005.4(NR2F2):c.746G>A (p.Trp249Ter) rs1567138573
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn) rs1899261470
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)

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