ClinVar Miner

List of variants in gene combination CARD14, SGSH studied for not provided

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001366385.1(CARD14):c.2807+248T>C rs6565646 0.68300
NM_001366385.1(CARD14):c.1852-60T>C rs2304856 0.51286
NM_001366385.1(CARD14):c.2692-151A>C rs4889998 0.48278
NM_001366385.1(CARD14):c.*288G>A rs7211773 0.47806
NM_001366385.1(CARD14):c.*274G>A rs7211656 0.47804
NM_001366385.1(CARD14):c.2808-252A>G rs7210317 0.47803
NM_001366385.1(CARD14):c.2692-182A>G rs4889837 0.47475
NM_001366385.1(CARD14):c.2808-290C>T rs7222024 0.47387
NM_001366385.1(CARD14):c.2398+42T>C rs4889836 0.41735
NM_001366385.1(CARD14):c.2398+30A>G rs4889996 0.41701
NM_001366385.1(CARD14):c.2219+252T>C rs11150848 0.41494
NM_001366385.1(CARD14):c.2398+49G>A rs4889997 0.40159
NM_001366385.1(CARD14):c.1979-125C>A rs3813063 0.39784
NM_001366385.1(CARD14):c.2398+220T>C rs9914039 0.07405
NM_001366385.1(CARD14):c.2219+258C>G rs9914128 0.07362
NM_001366385.1(CARD14):c.2283+11A>C rs9905662 0.07362
NM_001366385.1(CARD14):c.*231T>G rs9890208 0.05755
NM_001366385.1(CARD14):c.2807+123C>T rs62074416 0.05669
NM_001366385.1(CARD14):c.2885G>A (p.Arg962Gln) rs34850974 0.04584
NM_001366385.1(CARD14):c.2853G>A (p.Glu951=) rs78569961 0.01590
NM_001366385.1(CARD14):c.2044C>T (p.Arg682Trp) rs117918077 0.01097
NM_001366385.1(CARD14):c.*46T>C rs75486216 0.00820
NM_001366385.1(CARD14):c.2807+293C>T rs192219051 0.00461
NM_001366385.1(CARD14):c.2692-147C>T rs116354481 0.00460
NM_001366385.1(CARD14):c.2822G>A (p.Arg941Gln) rs74000616 0.00421
NM_001366385.1(CARD14):c.2859G>A (p.Ala953=) rs139969019 0.00386
NM_001366385.1(CARD14):c.1917C>T (p.Ala639=) rs79407194 0.00344
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_001366385.1(CARD14):c.2140G>A (p.Gly714Ser) rs151150961 0.00035
NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys) rs112478200 0.00025
NM_001366385.1(CARD14):c.2279G>A (p.Arg760His) rs143600438 0.00010
NM_001366385.1(CARD14):c.1860C>T (p.Tyr620=) rs148265488 0.00005
NM_001366385.1(CARD14):c.2159G>A (p.Arg720His) rs202094920 0.00003
NM_001366385.1(CARD14):c.2257A>G (p.Thr753Ala) rs528408567 0.00001
NM_001366385.1(CARD14):c.2764G>A (p.Val922Ile) rs763985273 0.00001
NM_001366385.1(CARD14):c.2792T>A (p.Met931Lys) rs773835416 0.00001
NM_001366385.1(CARD14):c.1852-303TTTCT[5] rs3217504
NM_001366385.1(CARD14):c.1978+142del rs11356264
NM_001366385.1(CARD14):c.2219+14T>A rs8069255
NM_001366385.1(CARD14):c.2219+14T>G rs8069255
NM_001366385.1(CARD14):c.2219+277G>C rs11150849
NM_001366385.1(CARD14):c.2283+121C>G rs2289540
NM_001366385.1(CARD14):c.2691+311C>G rs117183112
NM_001366385.1(CARD14):c.2726G>A (p.Ser909Asn) rs1359027479
NM_001366385.1(CARD14):c.2806A>G (p.Lys936Glu) rs2144609659
NM_001366385.1(CARD14):c.2807+233G>A rs7221289
NM_001366385.1(CARD14):c.2808-19C>A rs111745899
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001366385.1(CARD14):c.2962G>A (p.Ala988Thr) rs865867083

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