ClinVar Miner

List of variants reported as likely pathogenic for hypertrophic cardiomyopathy by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (244):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_000256.3(MYBPC3):c.2459G>C (p.Arg820Pro) rs2856655
NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn) rs606231340
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.61009G>T (p.Glu20337Ter) rs2050024892
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) rs1057519732
NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly) rs2037994433
NM_004333.6(BRAF):c.1475_1477del (p.Pro492del) rs1800500908
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys) rs2131289790
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr) rs1057519963
NM_006912.6(RIT1):c.268A>C (p.Met90Leu) rs1557960039
NM_022902.5(SLC30A5):c.1981_1982del (p.His661fs) rs1746589361
NM_022902.5(SLC30A5):c.832_836del (p.Ile278fs) rs1746359403
NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter)

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