ClinVar Miner

List of variants studied for Spermatogenic failure 57

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr) rs141903829 0.00192
NM_001271862.2(PNLDC1):c.136dup (p.Leu46fs) rs754159168 0.00002
NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter) rs200629089 0.00001
NM_001271862.2(PNLDC1):c.1257+2T>C
NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly) rs1254456989
NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser) rs2115028353
NM_001271862.2(PNLDC1):c.640-2A>T rs763048743

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