ClinVar Miner

List of variants reported as likely benign for 46,XY disorder of sex development by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_018194.6(HHAT):c.997G>A (p.Gly333Arg) rs61744143 0.00834
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_000781.3(CYP11A1):c.438C>T (p.Ala146=) rs141920628 0.00189
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_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_000781.3(CYP11A1):c.1290C>T (p.Phe430=) rs147405344 0.00031
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_024426.6(WT1):c.1264+19C>T rs2234592 0.00010
NM_024426.6(WT1):c.849C>T (p.Thr283=) rs145425799 0.00010
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910 0.00006
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_024426.6(WT1):c.1016+15C>T rs752756426 0.00004
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_024426.6(WT1):c.1038C>T (p.Ser346=) rs750018485 0.00003
NM_024426.6(WT1):c.115C>A (p.Arg39=) rs763147828 0.00001
NM_024426.6(WT1):c.27G>A (p.Pro9=) rs556835183 0.00001
NM_024426.6(WT1):c.945C>T (p.Asn315=) rs775085343 0.00001
NM_000044.6(AR):c.1370GCG[19] (p.Gly472_Gly473dup) rs746853821
NM_000044.6(AR):c.171GCA[14] (p.Gln72_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[35] (p.Gln69_Gln80dup) rs3032358
NM_001368894.2(PAX6):c.1221A>C (p.Ser407=) rs1949622831
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.662-10G>T rs1554945255
NM_024426.6(WT1):c.708G>A (p.Thr236=) rs768828897
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_024426.6(WT1):c.780G>A (p.Ser260=) rs1403311573

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