ClinVar Miner

List of variants studied for congenital heart disease by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.92595A>C (p.Leu30865Phe) rs192086736 0.00001
NM_004415.4(DSP):c.136G>A (p.Gly46Ser) rs371517189 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro) rs1114167322
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr) rs757922359
NM_001105206.3(LAMA4):c.133C>T (p.Gln45Ter) rs1114167336
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) rs1114167331
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001267550.2(TTN):c.101774_101776dup (p.Glu33925dup) rs1553497680
NM_001267550.2(TTN):c.11887G>A (p.Gly3963Arg) rs1000514079
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs) rs1553939749
NM_001267550.2(TTN):c.41486G>C (p.Gly13829Ala) rs1114167326
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs) rs1114167333
NM_001267550.2(TTN):c.521A>G (p.Tyr174Cys) rs1114167334
NM_001267550.2(TTN):c.54768del (p.Ser18258fs) rs1114167335
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs) rs1114167323
NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter) rs1114167338
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys) rs757441189
NM_001267550.2(TTN):c.86637T>A (p.Asn28879Lys) rs1114167328
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001276345.2(TNNT2):c.674G>A (p.Arg225Lys) rs1114167329
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) rs1114167327
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) rs1114167332
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) rs1040079072
NM_004415.4(DSP):c.1430A>G (p.His477Arg) rs1114167325
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335

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