ClinVar Miner

List of variants studied for 46,XY complete gonadal dysgenesis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (18):
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Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00073
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_005921.2(MAP3K1):c.835-11dup rs201780112

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