List of variants reported as likely pathogenic for 46,XY complete gonadal dysgenesis by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000009.12:g.(?_124482420)_(124482928_?)del
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)	rs104894899
NM_000475.5(NR0B1):c.1168+1_1168+20del	rs1555972943
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln)	rs1926485824
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)	rs104894888
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_003140.3(SRY):c.192G>A (p.Met64Ile)	rs104894969
NM_003140.3(SRY):c.212C>A (p.Ser71Tyr)	rs2124486256
NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly)	rs1579750361

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