ClinVar Miner

List of variants in gene LOC126862019, TDP1 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663 0.25304
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054 0.10566
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu) rs35455108 0.00620
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) rs141387488 0.00017
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) rs148927677 0.00017
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) rs140058160 0.00014
NM_018319.4(TDP1):c.19T>C (p.Tyr7His) rs754747710 0.00010
NM_018319.4(TDP1):c.15C>T (p.Gly5=) rs779666160 0.00009
NM_018319.4(TDP1):c.353C>T (p.Ala118Val) rs150113775 0.00003
NM_018319.4(TDP1):c.68C>T (p.Pro23Leu) rs1428279795 0.00001
NM_018319.4(TDP1):c.84A>G (p.Pro28=) rs1596498067 0.00001
NM_018319.4(TDP1):c.25A>G (p.Arg9Gly) rs906821798

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