ClinVar Miner

List of variants in gene ATP8B1, LOC100505549 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_005603.6(ATP8B1):c.*102G>T rs886054008
NM_005603.6(ATP8B1):c.*1083T>C rs138676107
NM_005603.6(ATP8B1):c.*1095A>T rs886054001
NM_005603.6(ATP8B1):c.*1254T>C rs17685852
NM_005603.6(ATP8B1):c.*132C>G rs745786597
NM_005603.6(ATP8B1):c.*1509A>G rs1968274
NM_005603.6(ATP8B1):c.*1524T>C rs886054000
NM_005603.6(ATP8B1):c.*1553T>G rs559805305
NM_005603.6(ATP8B1):c.*1723G>A rs11543269
NM_005603.6(ATP8B1):c.*1937T>A rs1129621
NM_005603.6(ATP8B1):c.*1940A>G rs117693241
NM_005603.6(ATP8B1):c.*2015del rs35833803
NM_005603.6(ATP8B1):c.*212T>C rs886054007
NM_005603.6(ATP8B1):c.*283G>A rs11152024
NM_005603.6(ATP8B1):c.*426G>A rs192231911
NM_005603.6(ATP8B1):c.*440C>T rs867751351
NM_005603.6(ATP8B1):c.*503G>T rs187993447
NM_005603.6(ATP8B1):c.*531C>T rs758654293
NM_005603.6(ATP8B1):c.*587G>A rs317822
NM_005603.6(ATP8B1):c.*646G>C rs886054006
NM_005603.6(ATP8B1):c.*651T>C rs886054005
NM_005603.6(ATP8B1):c.*694T>C rs886054004
NM_005603.6(ATP8B1):c.*735T>A rs561633356
NM_005603.6(ATP8B1):c.*776G>A rs886054003
NM_005603.6(ATP8B1):c.*827T>A rs182819607
NM_005603.6(ATP8B1):c.*888C>G rs149436273
NM_005603.6(ATP8B1):c.*900G>T rs4940950
NM_005603.6(ATP8B1):c.*968T>A rs886054002
NM_005603.6(ATP8B1):c.2098-30_2098-24dup rs34422185
NM_005603.6(ATP8B1):c.2098-30_2098-25dup rs34422185
NM_005603.6(ATP8B1):c.2098-30_2098-26dup rs34422185
NM_005603.6(ATP8B1):c.2098-30_2098-27dup rs34422185
NM_005603.6(ATP8B1):c.2098-30_2098-28dup rs34422185
NM_005603.6(ATP8B1):c.2098-7_2098delinsTTTTTAGT rs1568187066
NM_005603.6(ATP8B1):c.2498G>A (p.Arg833Gln) rs568134011
NM_005603.6(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719
NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=) rs199716374
NM_005603.6(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098
NM_005603.6(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689
NM_005603.6(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116
NM_005603.6(ATP8B1):c.2931+14G>A rs34451179
NM_005603.6(ATP8B1):c.2932-3C>A
NM_005603.6(ATP8B1):c.2939A>G (p.Tyr980Cys) rs886054010
NM_005603.6(ATP8B1):c.2968G>A (p.Val990Met) rs747325752
NM_005603.6(ATP8B1):c.2988C>T (p.Pro996=) rs776385207
NM_005603.6(ATP8B1):c.3016-9C>A rs34729241
NM_005603.6(ATP8B1):c.3059T>C (p.Ile1020Thr) rs199514707
NM_005603.6(ATP8B1):c.3450C>T (p.Ile1150=) rs886054009
NM_005603.6(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648
NM_005603.6(ATP8B1):c.3481G>A (p.Val1161Ile) rs771155047
NM_005603.6(ATP8B1):c.3531+8G>T rs34027711
NM_005603.6(ATP8B1):c.3532-15C>T rs12958967
NM_005603.6(ATP8B1):c.3654G>A (p.Ala1218=) rs778786114
NM_005603.6(ATP8B1):c.3696G>A (p.Ser1232=) rs754912569
NM_005603.6(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771

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