ClinVar Miner

List of variants reported as benign for cerebellar degeneration by Invitae

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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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_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
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_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=) rs17215458 0.01243
NM_001378969.1(KCND3):c.1519-4G>T rs72548732 0.01109
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335 0.00559
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_001378969.1(KCND3):c.957C>G (p.Ser319=) rs61733426 0.00386
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848 0.00225
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_000784.4(CYP27A1):c.1104G>A (p.Val368=) rs151064520 0.00093
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=) rs148428571 0.00038
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
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_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys) rs200532657 0.00012
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_001378969.1(KCND3):c.1269+13C>T rs72548726 0.00009
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=) rs190703406 0.00005
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00002
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_000784.4(CYP27A1):c.1017+14del rs372792485
NM_000784.4(CYP27A1):c.1263+10del rs765426068
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1477-3del rs2105981409
NM_000784.4(CYP27A1):c.1477-3dup
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val) rs59443548
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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