ClinVar Miner

List of variants reported as benign for Spinocerebellar ataxia type 19/22

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001378969.1(KCND3):c.1269+15C>A rs3738298 0.16477
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_001378969.1(KCND3):c.375G>A (p.Pro125=) rs2289723 0.01862
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=) rs17215458 0.01243
NM_001378969.1(KCND3):c.1519-4G>T rs72548732 0.01109
NM_001378969.1(KCND3):c.957C>G (p.Ser319=) rs61733426 0.00386
NM_001378969.1(KCND3):c.627G>C (p.Thr209=) rs149299911 0.00182
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) rs148428571 0.00038
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=) rs147262533 0.00036
NM_001378969.1(KCND3):c.870G>T (p.Arg290=) rs200894990 0.00021
NM_001378969.1(KCND3):c.789C>T (p.Asp263=) rs373264592 0.00019
NM_001378969.1(KCND3):c.459G>A (p.Ser153=) rs755206508 0.00018
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys) rs200532657 0.00012
NM_001378969.1(KCND3):c.1269+13C>T rs72548726 0.00009
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=) rs190703406 0.00005
NM_001378969.1(KCND3):c.624C>T (p.Gly208=) rs772815178 0.00001
NM_001378969.1(KCND3):c.786C>T (p.Ile262=) rs369172530 0.00001
NM_001378969.1(KCND3):c.1106+15G>A
NM_001378969.1(KCND3):c.1107-47915C>T rs1318670
NM_001378969.1(KCND3):c.1372-6dup rs769051410
NM_001378969.1(KCND3):c.1518+12del
NM_001378969.1(KCND3):c.633G>T (p.Pro211=) rs35131566

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