ClinVar Miner

List of variants studied for cardiomyopathy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr) rs181892289 0.00024
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_078470.6(COX15):c.532C>T (p.Arg178Cys) rs192078749 0.00008
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) rs920672041 0.00003
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_001159699.2(FHL1):c.499G>A (p.Val167Met) rs1332573754 0.00001
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642 0.00001
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) rs915830221 0.00001
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175 0.00001
NM_004409.5(DMPK):c.1837G>T (p.Ala613Ser) rs1003871860 0.00001
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr) rs1170556084 0.00001
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr) rs1554337589
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu) rs753460621
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) rs1553249704
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_003673.4(TCAP):c.1A>G (p.Met1Val) rs1567864804
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004409.5(DMPK):c.1789G>A (p.Val597Ile) rs1310210930
NM_004409.5(DMPK):c.395C>G (p.Thr132Arg) rs1600444823
NM_004409.5(DMPK):c.931C>T (p.Arg311Ter) rs762280354
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.3(SYNE2):c.12609+1G>T rs745516407
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
m.9804G>A rs200613617

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