ClinVar Miner

List of variants in gene CATSPER1 studied for reproductive system disorder

Included ClinVar conditions (663):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053054.4(CATSPER1):c.1954G>A (p.Val652Ile) rs3814747 0.95986
NM_053054.4(CATSPER1):c.1222C>A (p.Arg408=) rs2845570 0.44072
NM_053054.4(CATSPER1):c.-92T>C rs947847 0.34569
NM_053054.4(CATSPER1):c.397G>A (p.Gly133Ser) rs1203998 0.34448
NM_053054.4(CATSPER1):c.54C>T (p.Asn18=) rs1893316 0.20019
NM_053054.4(CATSPER1):c.2070C>T (p.Ala690=) rs3829937 0.17199
NM_053054.4(CATSPER1):c.1467C>T (p.Cys489=) rs75366838 0.02754
NM_053054.4(CATSPER1):c.-8G>A rs948477 0.01540
NM_053054.4(CATSPER1):c.1651C>T (p.Leu551=) rs1783562 0.01483
NM_053054.4(CATSPER1):c.1057G>A (p.Val353Ile) rs1191715 0.01351
NM_053054.4(CATSPER1):c.1544-6C>T rs147398525 0.00598
NM_053054.4(CATSPER1):c.730G>A (p.Gly244Arg) rs79062509 0.00566
NM_053054.4(CATSPER1):c.688C>T (p.Arg230Cys) rs113202862 0.00521
NM_053054.4(CATSPER1):c.144C>T (p.His48=) rs112725798 0.00487
NM_053054.4(CATSPER1):c.689G>A (p.Arg230His) rs74794071 0.00354
NM_053054.4(CATSPER1):c.231A>T (p.Gln77His) rs146165781 0.00234
NM_053054.4(CATSPER1):c.996G>C (p.Arg332=) rs114764419 0.00219
NM_053054.4(CATSPER1):c.148G>A (p.Val50Met) rs139889481 0.00195
NM_053054.4(CATSPER1):c.145G>A (p.Gly49Ser) rs149821768 0.00167
NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu) rs74484098 0.00153
NM_053054.4(CATSPER1):c.883C>T (p.Arg295Trp) rs150803613 0.00082
NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp) rs148686517 0.00070
NM_053054.4(CATSPER1):c.2064+6G>A rs143930161 0.00048
NM_053054.4(CATSPER1):c.2244C>T (p.Ser748=) rs142474326 0.00046
NM_053054.4(CATSPER1):c.*96G>A rs1783566 0.00040
NM_053054.4(CATSPER1):c.292C>T (p.Leu98=) rs149064120 0.00038
NM_053054.4(CATSPER1):c.995G>A (p.Arg332Gln) rs142296641 0.00029
NM_053054.4(CATSPER1):c.*23G>A rs373009756 0.00026
NM_053054.4(CATSPER1):c.1805G>A (p.Arg602Gln) rs145583697 0.00024
NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=) rs370158610 0.00024
NM_053054.4(CATSPER1):c.333C>T (p.Tyr111=) rs575875557 0.00022
NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=) rs139275824 0.00020
NM_053054.4(CATSPER1):c.1077G>A (p.Ser359=) rs541470218 0.00014
NM_053054.4(CATSPER1):c.261C>T (p.His87=) rs138438242 0.00014
NM_053054.4(CATSPER1):c.2126-13T>C rs369959435 0.00013
NM_053054.4(CATSPER1):c.813T>C (p.Asp271=) rs371489713 0.00013
NM_053054.4(CATSPER1):c.1457T>A (p.Ile486Lys) rs142758999 0.00011
NM_053054.4(CATSPER1):c.1672C>T (p.Arg558Trp) rs200714710 0.00011
NM_053054.4(CATSPER1):c.1270T>C (p.Trp424Arg) rs139761671 0.00006
NM_053054.4(CATSPER1):c.2269C>T (p.Arg757Cys) rs147304194 0.00005
NM_053054.4(CATSPER1):c.129C>T (p.Tyr43=) rs34822127 0.00004
NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp) rs764233008 0.00003
NM_053054.4(CATSPER1):c.1544-10G>A rs764182570 0.00003
NM_053054.4(CATSPER1):c.402G>A (p.Gly134=) rs370953416 0.00003
NM_053054.4(CATSPER1):c.1544-11C>T rs567657527 0.00002
NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser) rs760223439 0.00002
NM_053054.4(CATSPER1):c.773G>A (p.Arg258His) rs372082637 0.00002
NM_053054.4(CATSPER1):c.1445C>G (p.Ala482Gly) rs202004405 0.00001
NM_053054.4(CATSPER1):c.1567G>A (p.Val523Met) rs928590431 0.00001
NM_053054.4(CATSPER1):c.1950C>T (p.Ile650=) rs531856996 0.00001
NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met) rs373771804 0.00001
NM_053054.4(CATSPER1):c.543C>T (p.Pro181=) rs762457852 0.00001
NM_053054.4(CATSPER1):c.55G>A (p.Ala19Thr) rs775284326 0.00001
NM_053054.4(CATSPER1):c.695A>T (p.His232Leu) rs149769183 0.00001
NM_053054.4(CATSPER1):c.761G>T (p.Gly254Val) rs199940038 0.00001
NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu) rs773285320 0.00001
NM_053054.3(CATSPER1):c.-136G>A rs985258932
NM_053054.4(CATSPER1):c.*122AG[1] rs764701805
NM_053054.4(CATSPER1):c.*63G>A rs955432976
NM_053054.4(CATSPER1):c.-23del rs886048524
NM_053054.4(CATSPER1):c.-25del rs3841469
NM_053054.4(CATSPER1):c.1045T>G (p.Phe349Val) rs754953178
NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg) rs886048522
NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile) rs768194764
NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr) rs886048521
NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=) rs886048520
NM_053054.4(CATSPER1):c.216C>T (p.Ser72=) rs753646396
NM_053054.4(CATSPER1):c.2202-8A>C rs1326391621
NM_053054.4(CATSPER1):c.310G>A (p.Ala104Thr) rs552868982
NM_053054.4(CATSPER1):c.504C>T (p.His168=) rs886048523
NM_053054.4(CATSPER1):c.539dup (p.His182fs) rs193929390
NM_053054.4(CATSPER1):c.859_860del (p.Gln287fs) rs1565074167
NM_053054.4(CATSPER1):c.889C>T (p.Arg297Ter)
NM_053054.4(CATSPER1):c.890G>A (p.Arg297Gln) rs370635615
NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs) rs193929391
NM_053054.4(CATSPER1):c.945T>A (p.His315Gln) rs950065711

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.