ClinVar Miner

List of variants reported as benign for 46,XX disorder of sex development by Invitae

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.4(HSD17B4):c.281-7A>G rs35201279
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000941.3(POR):c.1518C>T (p.Asn506=) rs782397055
NM_000941.3(POR):c.1815+8G>A rs72557952
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.517-4G>A rs41299496
NM_000941.3(POR):c.870C>T (p.Thr290=) rs782249427
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381

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