ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum group A

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.-4A>G rs1800975 0.70140
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.-27G>C rs2607775 0.42677
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_000380.4(XPA):c.*203C>G rs3176751 0.12539
NM_004628.5(XPC):c.901-22A>G rs3731125 0.07731
NM_000380.4(XPA):c.*278T>C rs3176753 0.04443
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_000380.4(XPA):c.*234C>A rs3176752 0.01979
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_004628.5(XPC):c.780-15C>T rs3731116 0.00344
NM_004628.5(XPC):c.2251-37C>G rs2470353

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