ClinVar Miner

List of variants studied for Bile duct cancer by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) rs373404887 0.00013
NM_000455.5(STK11):c.678C>T (p.Asn226=) rs748832988 0.00005
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr) rs773053314 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_000251.3(MSH2):c.935T>C (p.Leu312Pro) rs2104180665

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