ClinVar Miner

List of variants reported as pathogenic for male reproductive organ cancer by Mendelics

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_000044.6(AR):c.2180G>T (p.Arg727Leu) rs137852593 0.00141
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_000044.6(AR):c.208C>T (p.Gln70Ter) rs1281274698 0.00017
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000044.6(AR):c.1195T>C (p.Trp399Arg) rs774645775 0.00010
NM_000044.6(AR):c.1063G>C (p.Glu355Gln) rs367604031 0.00004
NM_000044.6(AR):c.1208C>T (p.Ala403Val) rs772490323 0.00003
NM_000044.6(AR):c.1651G>C (p.Asp551His) rs777461721 0.00002
NM_000044.6(AR):c.1175C>G (p.Pro392Arg) rs773996740 0.00001
NM_000044.6(AR):c.2184C>G (p.Asn728Lys) rs768869912 0.00001
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 0.00001
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) rs752055010
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter) rs766731755

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