ClinVar Miner

List of variants reported as likely benign for cholestasis by Natera, Inc.

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670 0.00032
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=) rs369538863 0.00024
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.282C>T (p.Asp94=) rs775605577 0.00005
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) rs750100537 0.00001
NM_003742.4(ABCB11):c.2713T>C (p.Leu905=) rs763006206 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617

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