ClinVar Miner

List of variants reported as benign for cerebellar degeneration by Counsyl

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.171+6C>T rs3751368 0.13441
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.06221
NM_000051.4(ATM):c.186-17A>G rs4987907 0.01587
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.8010+30dup rs3218702

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