ClinVar Miner

List of variants studied for neurodegeneration, childhood-onset, with cerebellar atrophy by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001286715.1(AGTPBP1):c.2892del (p.Tyr964Terfs) rs780631499 0.00001
NM_001330701.2(AGTPBP1):c.2080T>G (p.Tyr694Asp) rs1564071824
NM_001330701.2(AGTPBP1):c.2336-1G>T rs1554699491
NM_001330701.2(AGTPBP1):c.2362C>T (p.Gln788Ter) rs1564046794
NM_001330701.2(AGTPBP1):c.2552C>T (p.Thr851Met) rs760300826
NM_001330701.2(AGTPBP1):c.2566C>T (p.Gln856Ter) rs1564041582
NM_001330701.2(AGTPBP1):c.2752C>T (p.Arg918Trp) rs1564035967
NM_001330701.2(AGTPBP1):c.2969A>T (p.His990Leu) rs1564034077

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