ClinVar Miner

List of variants studied for deafness-infertility syndrome

Included ClinVar conditions (3):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_153700.2(STRC):c.4917A>C (p.Leu1639=) rs2860666 0.00112
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_153700.2(STRC):c.3275G>A (p.Cys1092Tyr) rs727503447 0.00005
NM_153700.2(STRC):c.4351C>T (p.Arg1451Ter) rs778909195 0.00003
NC_000015.10:g.(?_43638998)_(43639062_?)del
NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del
Single allele
del(15)(q15.1-q15.3)

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