List of variants in gene combination LOC129993918, MAP3K1 reported as benign for 46,XY partial gonadal dysgenesis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=)	rs28710284	0.78277
NM_005921.2(MAP3K1):c.165G>A (p.Ala55=)	rs189140884	0.02295
NM_005921.2(MAP3K1):c.45G>A (p.Pro15=)	rs192120973	0.02279
NM_005921.2(MAP3K1):c.81C>T (p.Gly27=)	rs185050655	0.00789
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=)	rs542526689	0.00150
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro)	rs572205361	0.00149
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=)	rs759046760	0.00141
NM_005921.2(MAP3K1):c.381G>T (p.Ser127=)	rs1053991933	0.00066
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg)	rs765282250	0.00012
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His)	rs557606535	0.00011
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg)	rs531377824	0.00006
NM_005921.2(MAP3K1):c.228G>C (p.Gln76His)
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro)	rs1554028405
NM_005921.2(MAP3K1):c.293C>G (p.Ala98Gly)
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup)	rs779149827

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