ClinVar Miner

List of variants in gene CTSD studied for Neuronal ceroid lipofuscinosis 10

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Total variants: 81
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HGVS dbSNP
NM_001909.4:c.486-12G>A
NM_001909.5(CTSD):c.*117C>T rs527778631
NM_001909.5(CTSD):c.*130G>A
NM_001909.5(CTSD):c.*133G>A
NM_001909.5(CTSD):c.*140G>T rs551607350
NM_001909.5(CTSD):c.*19G>A rs201434721
NM_001909.5(CTSD):c.*200C>G
NM_001909.5(CTSD):c.*210C>G
NM_001909.5(CTSD):c.*300G>A rs113940256
NM_001909.5(CTSD):c.*330G>T
NM_001909.5(CTSD):c.*342C>T rs1050822
NM_001909.5(CTSD):c.*356C>G rs886048062
NM_001909.5(CTSD):c.*358C>T rs542969755
NM_001909.5(CTSD):c.*375A>G
NM_001909.5(CTSD):c.*390G>A
NM_001909.5(CTSD):c.*398G>A
NM_001909.5(CTSD):c.*403C>T rs140852332
NM_001909.5(CTSD):c.*494C>T
NM_001909.5(CTSD):c.*509C>T
NM_001909.5(CTSD):c.*555C>A
NM_001909.5(CTSD):c.*574C>T rs886048061
NM_001909.5(CTSD):c.*58C>T rs886048063
NM_001909.5(CTSD):c.*597A>C rs8839
NM_001909.5(CTSD):c.*651C>T
NM_001909.5(CTSD):c.*654C>T rs148490566
NM_001909.5(CTSD):c.*67A>G rs12214
NM_001909.5(CTSD):c.*694G>A rs751538234
NM_001909.5(CTSD):c.*736C>G rs577842141
NM_001909.5(CTSD):c.*98G>A
NM_001909.5(CTSD):c.-24C>T rs587780917
NM_001909.5(CTSD):c.-37G>A rs756112449
NM_001909.5(CTSD):c.-3G>T rs541792699
NM_001909.5(CTSD):c.-47A>G rs886048067
NM_001909.5(CTSD):c.-53C>T rs530324803
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.5(CTSD):c.1034A>G (p.Lys345Arg)
NM_001909.5(CTSD):c.1071+12A>G rs113936232
NM_001909.5(CTSD):c.1071+7G>A rs374010531
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1084G>A (p.Gly362Arg) rs746733183
NM_001909.5(CTSD):c.1116C>T (p.Gly372=) rs557342549
NM_001909.5(CTSD):c.1119G>C (p.Met373Ile) rs796052398
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys) rs121912790
NM_001909.5(CTSD):c.1162G>A (p.Val388Ile) rs202073338
NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala) rs778724059
NM_001909.5(CTSD):c.1196G>A (p.Arg399His) rs797045138
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)
NM_001909.5(CTSD):c.14G>C (p.Ser5Thr) rs764386803
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597
NM_001909.5(CTSD):c.285C>T (p.Val95=)
NM_001909.5(CTSD):c.315C>A (p.Val105=)
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.446G>T (p.Gly149Val) rs797045137
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_001909.5(CTSD):c.49C>T (p.Pro17Ser)
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.659A>C (p.Gln220Pro) rs886048066
NM_001909.5(CTSD):c.660G>C (p.Gln220His) rs762797920
NM_001909.5(CTSD):c.683_685TCT[1] (p.Phe229del) rs1057519591
NM_001909.5(CTSD):c.685T>A (p.Phe229Ile) rs121912789
NM_001909.5(CTSD):c.764dup (p.Tyr255Ter) rs786205105
NM_001909.5(CTSD):c.827+13T>C rs369602025
NM_001909.5(CTSD):c.828-17G>A rs78735768
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987
NM_001909.5(CTSD):c.928G>A (p.Glu310Lys) rs373699222
NM_001909.5(CTSD):c.940G>A (p.Ala314Thr) rs886048065
NM_001909.5(CTSD):c.946G>A (p.Gly316Arg) rs764766572
NM_001909.5(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001909.5(CTSD):c.973-8C>A rs886048064
NM_001909.5(CTSD):c.999C>A (p.Ser333=)

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