ClinVar Miner

List of variants in gene CYP1B1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_000104.4(CYP1B1):c.594C>T (p.Val198=) rs34731639 0.00420
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=) rs4987137 0.00191
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=) rs148461905 0.00014
NM_000104.4(CYP1B1):c.-14C>T rs886038239
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000104.4(CYP1B1):c.698G>C (p.Arg233Pro)
NM_000104.4(CYP1B1):c.78C>T (p.Leu26=)
NM_000104.4(CYP1B1):c.996G>A (p.Gln332=)

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