ClinVar Miner

List of variants studied for cardiomyopathy by Institute of Human Genetics, University of Goettingen

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys) rs756679265 0.00001
NM_020884.7(MYH7B):c.3004G>A (p.Glu1002Lys) rs1214758148 0.00001
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp) rs772831628 0.00001
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
NM_000152.5(GAA):c.2772del (p.Asn925fs)
NM_000256.3(MYBPC3):c.1225A>T (p.Lys409Ter) rs1114167419
NM_001005242.3(PKP2):c.928_938dup (p.Ser313fs) rs2137946568
NM_001018005.2(TPM1):c.139C>G (p.Gln47Glu) rs2031854538
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) rs2034911718
NM_001134363.3(RBM20):c.3147del (p.Lys1050fs) rs1844915022
NM_001267550.2(TTN):c.68169_68171dup (p.Tyr22724Ter)
NM_001458.5(FLNC):c.1549+3_1549+4insT
NM_002471.4(MYH6):c.2843A>G (p.Glu948Gly) rs2138598876
NM_004281.4(BAG3):c.670dup (p.Ser224fs) rs1135402750
NM_004333.6(BRAF):c.1820C>T (p.Ser607Phe) rs1255101216
NM_006767.4(LZTR1):c.274C>A (p.Leu92Ile)
NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly) rs1135401787
NM_182914.3(SYNE2):c.12108+10_12108+32dup rs1333520524

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