ClinVar Miner

List of variants studied for congenital heart defects, multiple types, 4

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_021005.4(NR2F2):c.537C>T (p.Ser179=) rs143951395 0.00055
NM_021005.4(NR2F2):c.129C>G (p.Pro43=) rs551936462 0.00029
NM_021005.4(NR2F2):c.834G>A (p.Ser278=) rs199886454 0.00021
NM_021005.4(NR2F2):c.816C>G (p.Ala272=) rs76163938 0.00019
NM_021005.4(NR2F2):c.970+18C>A rs373488143 0.00015
NM_021005.4(NR2F2):c.1242A>G (p.Gln414=) rs140022547 0.00009
NM_021005.4(NR2F2):c.357G>C (p.Arg119=) rs137861279 0.00007
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) rs901462929 0.00004
NM_021005.4(NR2F2):c.264C>G (p.Gly88=) rs757445345 0.00004
NM_021005.4(NR2F2):c.843C>T (p.Ser281=) rs1006491294 0.00003
NM_021005.4(NR2F2):c.443-5C>T rs374487006 0.00002
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) rs1236325542 0.00002
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp) rs1476787716 0.00001
NM_021005.4(NR2F2):c.1206C>T (p.Ser402=) rs757077299 0.00001
NM_021005.4(NR2F2):c.789C>T (p.Pro263=) rs1174849712 0.00001
NM_021005.4(NR2F2):c.882C>T (p.Ile294=) rs1163679972 0.00001
NM_021005.4(NR2F2):c.918C>T (p.His306=) rs751816358 0.00001
NM_021005.4(NR2F2):c.971-11C>T rs1208596248 0.00001
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1
NC_000015.9:g.(?_96875335)_(96880851_?)dup
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu) rs1474147673
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=) rs767004289
NM_021005.4(NR2F2):c.1019del (p.Lys340fs)
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371
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.150C>T (p.Ser50=)
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg) rs1381103214
NM_021005.4(NR2F2):c.210G>A (p.Lys70=) rs1899171814
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) rs780808943
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter) rs1899172049
NM_021005.4(NR2F2):c.237C>T (p.Cys79=)
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter) rs1555447012
NM_021005.4(NR2F2):c.269A>G (p.His90Arg) rs2141166925
NM_021005.4(NR2F2):c.276C>T (p.Gly92=) rs1332151769
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu) rs1899174214
NM_021005.4(NR2F2):c.36G>A (p.Gln12=) rs2141166624
NM_021005.4(NR2F2):c.414G>A (p.Lys138=) rs1373249033
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)
NM_021005.4(NR2F2):c.456C>T (p.Gly152=)
NM_021005.4(NR2F2):c.468G>T (p.Pro156=) rs746596432
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg) rs2141169030
NM_021005.4(NR2F2):c.558dup (p.Arg187fs)
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter) rs2141169116
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile) rs587777372
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)
NM_021005.4(NR2F2):c.648C>A (p.Ala216=)
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.687C>T (p.Asn229=)
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.819C>T (p.Ala273=)
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs) rs1555446983
NM_021005.4(NR2F2):c.856dup (p.Val286fs) rs886041730
NM_021005.4(NR2F2):c.879G>A (p.Arg293=)
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn) rs1899261470
NM_021005.4(NR2F2):c.958C>T (p.Leu320=) rs1596428579
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)
NM_021005.4(NR2F2):c.970+12_970+16dup rs563165104
NM_021005.4(NR2F2):c.970+1G>A rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs) rs1899167019

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