ClinVar Miner

List of variants studied for Spermatogenic failure 75 by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001378211.1(SHOC1):c.4466G>A (p.Arg1489His) rs533026166 0.00005
NM_001378211.1(SHOC1):c.1774C>T (p.Arg592Ter) rs1004968910 0.00003
NM_001378211.1(SHOC1):c.2170G>A (p.Ala724Thr) rs755742775 0.00001
NM_001378211.1(SHOC1):c.1386del (p.Leu464fs) rs779445148
NM_001378211.1(SHOC1):c.1656del (p.Asp553fs) rs2131436525
NM_001378211.1(SHOC1):c.423_424del (p.Leu142fs) rs777595871
NM_001378211.1(SHOC1):c.989del (p.Leu330fs) rs2131520030

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