ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser) rs201294520 0.00006
NM_000216.4(ANOS1):c.255+5G>A rs773138384 0.00004
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=) rs879255502 0.00003
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu) rs139149160 0.00003
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn) rs773398782 0.00002
NM_005633.4(SOS1):c.979A>G (p.Ile327Val) rs758546951 0.00002
NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu) rs782511378 0.00002
NM_000340.2(SLC2A2):c.963+1G>A rs371977235 0.00001
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834 0.00001
NM_014251.3(SLC25A13):c.1958A>G (p.Lys653Arg) rs879255501 0.00001
NM_014363.6(SACS):c.9723G>C (p.Glu3241Asp) rs772595501 0.00001
NM_015909.4(NBAS):c.586C>T (p.Gln196Ter) rs1131692171 0.00001
NC_000003.12:g.136246220_136254271del
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe) rs879255505
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del) rs1557054859
NM_000044.6(AR):c.1685T>C (p.Ile562Thr) rs886041050
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000095.3(COMP):c.1126G>T (p.Asp376Tyr) rs1555791556
NM_000095.3(COMP):c.1489+2T>A rs1131692038
NM_000159.4(GCDH):c.731del (p.Gly244fs) rs878853244
NM_000162.5(GCK):c.112C>T (p.Gln38Ter) rs878853246
NM_000216.4(ANOS1):c.145T>C (p.Cys49Arg) rs1057520209
NM_000216.4(ANOS1):c.1904A>C (p.Gln635Pro) rs1057519418
NM_000216.4(ANOS1):c.33_34insA (p.Leu12fs) rs1057520210
NM_000339.2(SLC12A3):c.[1849C>T];[1919A>G]
NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter) rs1553784995
NM_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]
NM_000348.4(SRD5A2):c.725A>G (p.Tyr242Cys) rs1553323036
NM_000455.5(STK11):c.541A>G (p.Asn181Asp) rs886037926
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr) rs878853247
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
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.254T>C (p.Ile85Thr) rs878853245
NM_000531.6(OTC):c.72_77+18del rs863225061
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) rs1060499732
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) rs886041121
NM_000785.3(CYP27B1):c.[1319_1325dupCCCACCC];[1358G>A]
NM_001015877.2(PHF6):c.113del (p.Lys38fs) rs1057519064
NM_001042492.3(NF1):c.3197+3A>T rs1359512152
NM_001197104.2(KMT2A):c.602_603insT (p.Lys201fs) rs1555035550
NM_001354712.2(THRB):c.1326_1327delinsAT (p.Met442_Lys443delinsIleTer) rs1553609167
NM_001354712.2(THRB):c.1351T>G (p.Phe451Val) rs1057519028
NM_001367721.1(CASK):c.2604+1G>T rs1555972599
NM_001369268.1(ACAN):c.1193T>A (p.Ile398Asn) rs1555454545
NM_001374353.1(GLI2):c.1375G>C (p.Ala459Pro) rs772017351
NM_001379500.1(COL18A1):c.1613G>T (p.Gly538Val) rs1114167359
NM_001379500.1(COL18A1):c.2673dup (p.Gly892fs) rs749009747
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) rs1554095568
NM_003060.4(SLC22A5):c.1365dup (p.Thr456fs) rs878853248
NM_003060.4(SLC22A5):c.659A>T (p.Glu220Val) rs878853249
NM_003140.3(SRY):c.227G>T (p.Arg76Leu) rs1057519627
NM_003482.4(KMT2D):c.11475_11478del (p.Gln3826fs) rs1057519067
NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter) rs886041106
NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe) rs1555198886
NM_003482.4(KMT2D):c.6765G>A (p.Leu2255=) rs886037915
NM_004380.3(CREBBP):c.4134-1G>T rs886041048
NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr) rs886037927
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) rs886044765
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_005189.3(CBX2):c.264del (p.Cys89fs) rs1057519060
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg) rs1555685038
NM_005491.5(MAMLD1):c.394G>T (p.Glu132Ter) rs1135402752
NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile) rs886041049
NM_014251.3(SLC25A13):c.495del (p.Ala166fs) rs879255504
NM_014251.3(SLC25A13):c.616-11A>G rs879255503
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter) rs746155190
NM_015665.6(AAAS):c.200C>T (p.Thr67Ile) rs1114167372
NM_015909.4(NBAS):c.2065T>C (p.Leu689=) rs1131692172
NM_017662.5(TRPM6):c.2495A>G (p.Tyr832Cys) rs1060499646
NM_017662.5(TRPM6):c.3357C>A (p.Cys1119Ter) rs1114167360
NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) rs1131692039
NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs) rs886040962
NM_018668.4(VPS33B):c.[1030+1G>T];[319C>T]
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) rs867798393
NM_021951.3(DMRT1):c.332G>T (p.Arg111Met) rs1057519638
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
NM_023110.3(FGFR1):c.2206T>C (p.Cys736Arg) rs1554546677
NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn) rs1057519065
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
NM_130839.5(UBE3A):c.2553_2569del (p.Ser851fs) rs1057519062
NM_144773.4(PROKR2):c.97T>C (p.Tyr33His) rs886037916
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) rs1555502708
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter) rs746797123

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.