ClinVar Miner

List of variants reported as likely benign for Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_016356.5(DCDC2):c.1208G>A (p.Arg403His) rs139858268 0.00194
NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala) rs144695853 0.00183
NM_016356.5(DCDC2):c.402G>A (p.Pro134=) rs142088541 0.00064
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser) rs146787541 0.00061
NM_016356.5(DCDC2):c.888A>G (p.Lys296=) rs41271773 0.00029
NM_016356.5(DCDC2):c.349-15C>T rs200146922 0.00025
NM_016356.5(DCDC2):c.222C>A (p.Ile74=) rs138670560 0.00022
NM_016356.5(DCDC2):c.923-12T>G rs200973005 0.00015
NM_016356.5(DCDC2):c.349-9C>G rs765613994 0.00014
NM_016356.5(DCDC2):c.750T>G (p.Ser250=) rs372157851 0.00011
NM_016356.5(DCDC2):c.1422C>T (p.Ala474=) rs146868469 0.00010
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu) rs745333409 0.00009
NM_016356.5(DCDC2):c.705-4A>C rs774040286 0.00007
NM_016356.5(DCDC2):c.954G>A (p.Arg318=) rs140084657 0.00007
NM_016356.5(DCDC2):c.1203T>A (p.Pro401=) rs143452599 0.00004
NM_016356.5(DCDC2):c.1344A>G (p.Gln448=) rs368603558 0.00004
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=) rs374448795 0.00003
NM_016356.5(DCDC2):c.1099T>A (p.Ser367Thr) rs538198742 0.00002
NM_016356.5(DCDC2):c.456A>G (p.Pro152=) rs764454438 0.00002
NM_016356.5(DCDC2):c.45C>A (p.Val15=) rs148029760 0.00001
NM_016356.5(DCDC2):c.471T>G (p.Leu157=) rs374456364 0.00001
NM_016356.5(DCDC2):c.57G>T (p.Val19=) rs577487337 0.00001
NM_016356.5(DCDC2):c.923-18G>A rs768651764 0.00001
NM_016356.5(DCDC2):c.93G>A (p.Gly31=) rs938050921 0.00001
NM_016356.5(DCDC2):c.999T>G (p.Thr333=) rs1561889345 0.00001
NM_016356.5(DCDC2):c.1023+11T>C
NM_016356.5(DCDC2):c.1023+14C>A
NM_016356.5(DCDC2):c.1024-16C>T
NM_016356.5(DCDC2):c.1164C>T (p.Val388=) rs767129413
NM_016356.5(DCDC2):c.1221C>G (p.Gly407=)
NM_016356.5(DCDC2):c.1224C>A (p.Thr408=) rs763861048
NM_016356.5(DCDC2):c.1224C>T (p.Thr408=)
NM_016356.5(DCDC2):c.1272A>G (p.Gln424=)
NM_016356.5(DCDC2):c.1275G>T (p.Leu425=)
NM_016356.5(DCDC2):c.1326+9A>G
NM_016356.5(DCDC2):c.1327-15T>A
NM_016356.5(DCDC2):c.144G>C (p.Leu48=)
NM_016356.5(DCDC2):c.293+20C>T
NM_016356.5(DCDC2):c.294-11T>A
NM_016356.5(DCDC2):c.349-8T>G
NM_016356.5(DCDC2):c.366T>C (p.His122=)
NM_016356.5(DCDC2):c.425+11A>T
NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg) rs141060456
NM_016356.5(DCDC2):c.543C>T (p.Ser181=) rs141060456
NM_016356.5(DCDC2):c.555C>T (p.His185=)
NM_016356.5(DCDC2):c.557+14A>G
NM_016356.5(DCDC2):c.558-4A>G
NM_016356.5(DCDC2):c.558-5G>T
NM_016356.5(DCDC2):c.558-6C>T
NM_016356.5(DCDC2):c.696G>A (p.Arg232=) rs758802517
NM_016356.5(DCDC2):c.705-10G>T rs1554116524
NM_016356.5(DCDC2):c.705-11del rs758628136
NM_016356.5(DCDC2):c.732T>C (p.Ile244=)
NM_016356.5(DCDC2):c.759+17T>G
NM_016356.5(DCDC2):c.760-7C>T
NM_016356.5(DCDC2):c.918T>C (p.Asn306=) rs1239033952
NM_016356.5(DCDC2):c.922+19T>C
NM_016356.5(DCDC2):c.923-10G>T
NM_016356.5(DCDC2):c.923-12_923-9del
NM_016356.5(DCDC2):c.923-8C>T
NM_016356.5(DCDC2):c.99C>T (p.Arg33=)

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