ClinVar Miner

List of variants studied for cardiomyopathy by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (559):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp) rs770344400 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys) rs1131692281 0.00001
NC_000011.10:g.47347670del rs727503212
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000257.4(MYH7):c.1217_1218del (p.Val406fs) rs1892824277
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met) rs1348730180
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001035.3(RYR2):c.2139G>A (p.Trp713Ter) rs2150449007
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr) rs2038706856
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys) rs1279770165
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser) rs397507473
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs) rs2150860676
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.993+2T>C
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462

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