ClinVar Miner

List of variants reported as uncertain significance 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: 31
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
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_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
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_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 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_016203.4(PRKAG2):c.274C>A (p.Pro92Thr) rs1170556084 0.00001
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
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.31643C>T (p.Pro10548Leu) rs753460621
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_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

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