ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000384.3(APOB):c.10030A>G (p.Lys3344Glu)
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.4(LDLR):c.313+1G>A
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001365276.2(TNXB):c.7168+1G>T rs748759848
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885

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