ClinVar Miner

List of variants reported as benign for adrenogenital syndrome by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001395413.1(POR):c.1707G>A (p.Ser569=) rs1057870 0.28425
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_001395413.1(POR):c.1239+20G>A rs2286823 0.27178
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_001395413.1(POR):c.360C>T (p.Ala120=) rs41299490 0.00719
NM_001395413.1(POR):c.78G>A (p.Thr26=) rs41295381 0.00681
NM_001395413.1(POR):c.1889+3G>A rs41301439 0.00568
NM_001395413.1(POR):c.508-4G>A rs41299496 0.00462
NM_001395413.1(POR):c.508-14_508-13del rs72557912 0.00363
NM_001395413.1(POR):c.1661-17C>T rs10265262 0.00362
NM_001395413.1(POR):c.1889+13G>T rs72557956 0.00178
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00106
NM_001395413.1(POR):c.675G>A (p.Pro225=) rs72555510 0.00062
NM_001395413.1(POR):c.633-5C>G rs72555509 0.00047
NM_001395413.1(POR):c.889G>A (p.Glu297Lys) rs11540674 0.00044
NM_001395413.1(POR):c.1227C>T (p.Ser409=) rs41301424 0.00041
NM_001395413.1(POR):c.1512C>T (p.Gly504=) rs370823127 0.00029
NM_001395413.1(POR):c.1806+8G>A rs72557952 0.00024
NM_001395413.1(POR):c.735C>T (p.Tyr245=) rs201786397 0.00021
NM_001395413.1(POR):c.1509C>T (p.Asn503=) rs782397055 0.00010
NM_001395413.1(POR):c.991G>A (p.Val331Ile) rs562241770 0.00006
NM_001395413.1(POR):c.861C>T (p.Thr287=) rs782249427 0.00004
NM_001395413.1(POR):c.1044G>A (p.Leu348=) rs782369494
NM_001395413.1(POR):c.1182G>A (p.Ser394=) rs72557928
NM_001395413.1(POR):c.1239+10_1239+33del rs782146699
NM_001395413.1(POR):c.1239+10del rs797045899
NM_001395413.1(POR):c.1660+10dup
NM_001395413.1(POR):c.1889+14dup
NM_001395413.1(POR):c.507+15_507+16del rs368249506

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