ClinVar Miner

List of variants in gene GIGYF2 studied for Parkinson disease

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001103146.3(GIGYF2):c.2940A>G (p.Gln980=) rs3816334 0.69457
NM_001103146.3(GIGYF2):c.3684+15G>A rs6437074 0.69433
NM_001103146.3(GIGYF2):c.3461-9G>A rs2305137 0.66032
NM_001103146.3(GIGYF2):c.3630_3632del (p.Gln1216del) rs10555297 0.62170
NM_001103146.3(GIGYF2):c.3651G>A (p.Pro1217=) rs12328151 0.17959
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=) rs2305138 0.07960
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser) rs72554080 0.00033
NM_001103146.3(GIGYF2):c.1370A>C (p.Asn457Thr) rs116074753 0.00032
NM_001103146.3(GIGYF2):c.1262A>G (p.Lys421Arg) rs115735611 0.00016
NM_001103146.3(GIGYF2):c.832A>G (p.Ile278Val) rs118203904 0.00006
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val) rs748538823 0.00005
NM_001103146.3(GIGYF2):c.1818C>G (p.Asp606Glu) rs118203903
NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala) rs1700885234
NM_001103146.3(GIGYF2):c.2489A>T (p.Glu830Val) rs1327472255
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs) rs371622656

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