ClinVar Miner

List of variants in gene XRCC1 studied for cerebellar disorder

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_006297.3(XRCC1):c.1896A>G (p.Gln632=) rs3547 0.62026
NM_006297.3(XRCC1):c.618A>G (p.Pro206=) rs915927 0.40597
NM_006297.3(XRCC1):c.1481+9G>A rs25479 0.37650
NM_006297.3(XRCC1):c.1738C>T (p.Arg580Trp) rs140655170 0.00006
NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn) rs761564262 0.00003
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)
NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter) rs1555768154
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del) rs777476390
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)

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