ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004628.5(XPC):c.2605-40A>G rs2733532 0.65805
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_004628.5(XPC):c.2604+28C>G rs2733534 0.41913
NM_004628.5(XPC):c.621+44C>G rs3729587 0.34174
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_004628.5(XPC):c.901-22A>G rs3731125 0.07731
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_004628.5(XPC):c.1443G>T (p.Lys481Asn) rs182616621 0.00456
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_004628.5(XPC):c.1539G>C (p.Met513Ile) rs3731130 0.00064
NM_004628.5(XPC):c.2088G>A (p.Val696=) rs182189497 0.00042
NM_004628.5(XPC):c.2251-1G>C rs754673606 0.00006
NM_004628.5(XPC):c.572G>A (p.Arg191Gln) rs575874780 0.00006
NM_004628.5(XPC):c.147C>T (p.Ser49=) rs376018905 0.00005
NM_004628.5(XPC):c.2022G>A (p.Ala674=) rs200278513 0.00005
NM_004628.5(XPC):c.1233G>A (p.Lys411=) rs765965433 0.00001
NM_004628.5(XPC):c.2033+4C>T rs753195190 0.00001
NM_004628.5(XPC):c.2697A>C (p.Ile899=) rs773031424 0.00001
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.1709T>G (p.Val570Gly) rs1695998695
NM_004628.5(XPC):c.2251-37C>G rs2470353
NM_004628.5(XPC):c.2421-25_2604+301del
NM_004628.5(XPC):c.2605-9_2609del

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