ClinVar Miner

List of variants in gene CATSPER1 studied for spermatogenic failure

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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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.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.*63G>A rs955432976
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

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