ClinVar Miner

List of variants reported as likely pathogenic by Clinical Genetics Laboratory, Region Ostergotland

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_000093.5(COL5A1):c.2488G>T (p.Glu830Ter) rs1837403402
NM_000138.5(FBN1):c.5911T>G (p.Cys1971Gly) rs1555395745
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser) rs1566894230
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1794+2_1794+5del rs1846743506
NM_000218.3(KCNQ1):c.248del (p.Pro83fs)
NM_000218.3(KCNQ1):c.605-2A>G rs2133728692
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.773-1G>C rs2142865708
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter) rs1553695764
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_001267550.2(TTN):c.73200del (p.Ile24399_Tyr24400insTer)
NM_001267550.2(TTN):c.77604T>G (p.Tyr25868Ter) rs752137856
NM_001458.5(FLNC):c.539A>G (p.Asn180Ser) rs2128933682
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) rs1325125531

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