ClinVar Miner

List of variants studied for 46,XX disorder of sex development

Included ClinVar conditions (6):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3
GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)
GRCh37/hg19 Yp11.31-11.2(chrY:2650140-7114097)
NC_000017.10:g.(69320000_69330000)_(69527000_69517000)dup
NC_000017.10:g.69521863_69670036dup
NM_001242908.2(RSPO1):c.-288-413_94+1957del
NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9) rs2148163144
NM_001242908.2(RSPO1):c.115G>A (p.Ala39Thr) rs201499112
NM_001242908.2(RSPO1):c.254del (p.Asp85fs)
NM_003140.3(SRY):c.305C>T (p.Thr102Ile)
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_004959.5(NR5A1):c.637_640dup (p.Pro214fs) rs1832447335
NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) rs1564153753
NM_006293.4(TYRO3):c.666_667insCACTGCCTGCAGCCCCCTTCAACATCACC (p.Ala223fs)
SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION

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