ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Phosphorus, Inc.

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728 0.00058
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val) rs370285346 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862 0.00006
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln) rs771180054 0.00002
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_001032283.3(TMPO):c.565+1165G>C rs191275106 0.00001
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837 0.00001
NM_001927.4(DES):c.541G>A (p.Asp181Asn) rs1297244198 0.00001
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn) rs753406968 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr) rs146722878 0.00001
NM_006939.4(SOS2):c.2161+10A>G rs201629454 0.00001
NM_014000.3(VCL):c.625A>T (p.Met209Leu) rs144683137 0.00001
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) rs730880852
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) rs547323858
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_001276345.2(TNNT2):c.851+5G>C rs193922620
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His) rs559667295
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_003280.3(TNNC1):c.140T>G (p.Met47Arg) rs1553651744
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_032578.4(MYPN):c.806C>T (p.Pro269Leu) rs1489529278
NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg) rs184027783
NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu) rs182640468

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