ClinVar Miner

List of variants in gene ATP8B1 reported as benign for digestive system disorder

Included ClinVar conditions (605):
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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr) rs222581 0.99879
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.1430-89C>T rs319459 0.99232
NM_001374385.1(ATP8B1):c.699-52C>T rs319442 0.99086
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
NM_001374385.1(ATP8B1):c.698+20C>T rs319439 0.42536
NM_001374385.1(ATP8B1):c.1932+44C>T rs317838 0.39951
NM_001374385.1(ATP8B1):c.-106C>T rs1848701 0.38084
NM_001374385.1(ATP8B1):c.*1509A>G rs1968274 0.25162
NM_001374385.1(ATP8B1):c.*1254T>C rs17685852 0.20609
NM_001374385.1(ATP8B1):c.*1937T>A rs1129621 0.20604
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_001374385.1(ATP8B1):c.*1723G>A rs11543269 0.09080
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001374385.1(ATP8B1):c.*283G>A rs11152024 0.07759
NM_001374385.1(ATP8B1):c.3016-9C>A rs34729241 0.01910
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_001374385.1(ATP8B1):c.*11C>T rs34255016 0.00974
NM_001374385.1(ATP8B1):c.*888C>G rs149436273 0.00683
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=) rs35757087 0.00529
NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln) rs35623014 0.00451
NM_001374385.1(ATP8B1):c.-25-6T>C rs35671095 0.00443
NM_001374385.1(ATP8B1):c.*1940A>G rs117693241 0.00436
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648 0.00137
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771 0.00137
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078 0.00135
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln) rs3745079 0.00124
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln) rs568134011 0.00010
NM_001374385.1(ATP8B1):c.*2015del rs35833803
NM_001374385.1(ATP8B1):c.*587G>A rs317822
NM_001374385.1(ATP8B1):c.*900G>T rs4940950
NM_001374385.1(ATP8B1):c.1430-126_1430-124del rs10594129
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=) rs35953143

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