ClinVar Miner

List of variants in gene HSD3B2 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=) rs143038843 0.00016
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) rs587675471 0.00011
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg) rs762479018 0.00004
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404 0.00002
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=) rs996323669 0.00002
NM_000198.4(HSD3B2):c.867del (p.Met290fs) rs767167623 0.00002
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) rs147383167 0.00001
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=) rs767147330 0.00001
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221 0.00001
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=) rs1040579140

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