ClinVar Miner

List of variants studied for cerebellar degeneration by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_001382391.1(CSPP1):c.2539-12T>A rs185726462 0.00080
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys) rs142806268 0.00026
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn) rs201021919 0.00003
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg) rs1392733763 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016529.6(ATP8A2):c.1665G>A (p.Met555Ile) rs1398724919 0.00001
NM_020247.5(COQ8A):c.1399-12C>T rs377529632 0.00001
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_001037633.1:c.-197_90delinsCTGTACTTTCTCAGTTCACT
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_001382391.1(CSPP1):c.2146_2147del (p.Ser716fs)
NM_001382391.1(CSPP1):c.2392-8_2392-4del rs528357182
NM_001447.3(FAT2):c.1521T>G (p.Ile507Met) rs1758328376
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_182961.4(SYNE1):c.13391A>G (p.Gln4464Arg) rs2153973584

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