ClinVar Miner

List of variants reported as likely pathogenic by Rare Disease Group, Clinical Genetics, Karolinska Institutet

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001353108.3(CEP63):c.1125T>G (p.Tyr375Ter) rs753579827 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys) rs1166449446 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NC_000001.10:g.85569702_85585573del
NC_000002.11:g.39053852_42501893dup
NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]
NM_000280.4:c.1267A>T
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_000977.4(RPL13):c.569G>T (p.Arg190Leu) rs374646539
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs) rs1555349214
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) rs1566883760
NM_001353108.3(CEP63):c.595del (p.Glu199fs) rs2109591981
NM_002381.5(MATN3):c.224-2153_1168+903dup
NM_002689.4(POLA2):c.1271C>T (p.Pro424Leu)
NM_002689.4(POLA2):c.287T>C (p.Ile96Thr)
NM_004035.7(ACOX1):c.1729-1G>A rs566377861
NM_007129.5(ZIC2):c.1225C>T (p.Arg409Trp) rs1594291868
NM_007129.5:c.264T>G
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs) rs1597454239
NM_014694.4(ADAMTSL2):c.1061del (p.Gly354fs)
NM_014694.4(ADAMTSL2):c.229C>T (p.Gln77Ter)
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_014694.4(ADAMTSL2):c.496C>T (p.Arg166Cys)
NM_014694.4(ADAMTSL2):c.502G>A (p.Gly168Ser)
NM_014694.4(ADAMTSL2):c.718C>T (p.Arg240Ter)
NM_014694.4(ADAMTSL2):c.800G>T (p.Gly267Val)
NM_019059.5(TOMM7):c.73T>C (p.Trp25Arg)
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys) rs1581535605
NM_025103.4(IFT74):c.-19-2025_120+884delinsTTA
NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)
NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
NM_033109.5(PNPT1):c.420del (p.Leu141fs) rs1572834021
Single allele

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