ClinVar Miner

List of variants in gene TSPAN12 reported by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) rs538591733 0.00001
NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg) rs267607151 0.00001
NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) rs200519776 0.00001
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs) rs1554403626
NM_012338.4(TSPAN12):c.285+1G>A rs587777285
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) rs267607152
NM_012338.4(TSPAN12):c.361-5_361-1del rs794726655
NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) rs587777283
NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter) rs267607153
NM_012338.4(TSPAN12):c.67-1G>C rs587777284
NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) rs267607154

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