ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080473.5(GATA5):c.232G>A (p.Gly78Ser) rs572247741 0.00227
NM_080473.5(GATA5):c.477C>G (p.Phe159Leu) rs112433432 0.00088
NM_080473.5(GATA5):c.424T>C (p.Tyr142His) rs111554140 0.00061
NM_080473.5(GATA5):c.83C>T (p.Ala28Val) rs112701160 0.00038
NM_080473.5(GATA5):c.1088A>G (p.Lys363Arg) rs140317494 0.00026
NM_001492.6(GDF1):c.599G>A (p.Gly200Asp) rs573559104 0.00015
NM_021005.4(NR2F2):c.1242A>G (p.Gln414=) rs140022547 0.00009
NM_001292034.3(TAB2):c.1535C>G (p.Ala512Gly) rs763663979 0.00004
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala) rs901462929 0.00004
NM_001292034.3(TAB2):c.1025G>A (p.Arg342His) rs750390016 0.00002
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser) rs1236325542 0.00002
NM_001492.6(GDF1):c.137G>C (p.Arg46Pro) rs2055941159 0.00001
NM_001492.6(GDF1):c.596T>C (p.Leu199Pro) rs868026629 0.00001
NM_001492.6(GDF1):c.997G>A (p.Asp333Asn) rs1429110767 0.00001
NM_080473.5(GATA5):c.695G>A (p.Arg232His) rs753656900 0.00001
NC_000015.9:g.(?_96875335)_(96880851_?)dup
NM_001292034.3(TAB2):c.1154C>T (p.Pro385Leu) rs71568273
NM_001292034.3(TAB2):c.1580C>T (p.Ser527Phe)
NM_001292034.3(TAB2):c.17A>G (p.His6Arg)
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
NM_001292034.3(TAB2):c.2051G>A (p.Cys684Tyr) rs1562459581
NM_001292034.3(TAB2):c.287G>A (p.Arg96Lys) rs1781470267
NM_001292034.3(TAB2):c.441del (p.Ala148fs) rs1583139711
NM_001492.6(GDF1):c.537del (p.Pro180fs)
NM_001492.6(GDF1):c.649C>G (p.Leu217Val) rs2055909840
NM_015103.3(PLXND1):c.2240C>T (p.Thr747Met)
NM_015103.3(PLXND1):c.2870C>T (p.Pro957Leu)
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)
NM_080473.5(GATA5):c.226G>T (p.Gly76Cys)
NM_080473.5(GATA5):c.405G>T (p.Gly135=)
NM_080473.5(GATA5):c.714C>T (p.Arg238=)
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys) rs143901995

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.