ClinVar Miner

List of variants reported as pathogenic by Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000340.2(SLC2A2):c.963+1G>A rs371977235 0.00001
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834 0.00001
NM_015909.4(NBAS):c.586C>T (p.Gln196Ter) rs1131692171 0.00001
NC_000003.12:g.136246220_136254271del
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000159.4(GCDH):c.731del (p.Gly244fs) rs878853244
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) rs878853246
NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs) rs1057520210
NM_000339.2(SLC12A3):c.[1849C>T];[1919A>G]
NM_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]
NM_000500.7(CYP21A2):c.[377C>G];[518T>A]
NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]
NM_000525.4(KCNJ11):c.967dup (p.Asp323fs) rs1554901596
NM_000531.6(OTC):c.72_77+18del rs863225061
NM_000785.3(CYP27B1):c.[1319_1325dupCCCACCC];[1358G>A]
NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs) rs1555035550
NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer) rs1553609167
NM_001367721.1(CASK):c.2604+1G>T rs1555972599
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) rs749009747
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) rs1554095568
NM_003060.4(SLC22A5):c.1365dup (p.Thr456fs) rs878853248
NM_003482.4(KMT2D):c.11475_11478del (p.Gln3826fs) rs1057519067
NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter) rs886041106
NM_005491.5(MAMLD1):c.394G>T (p.Glu132Ter) rs1135402752
NM_014251.3(SLC25A13):c.495del (p.Ala166fs) rs879255504
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) rs746155190
NM_017662.5(TRPM6):c.3357C>A (p.Cys1119Ter) rs1114167360
NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs) rs886040962
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs) rs1057519062
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) rs1555502708
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123

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