ClinVar Miner

List of variants in gene CATSPER1 reported as benign for spermatogenic failure

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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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.730G>A (p.Gly244Arg) rs79062509 0.00566

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