ClinVar Miner

List of variants studied for Van der Woude syndrome 2 by Invitae

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001199013.2(STPG1):c.738-3233A>T rs545809 0.25496
NM_198173.3(GRHL3):c.1746C>T (p.Val582=) rs12030057 0.23598
NM_198173.3(GRHL3):c.1110C>G (p.Val370=) rs11576645 0.17736
NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu) rs2486668 0.17201
NM_198173.3(GRHL3):c.479T>C (p.Val160Ala) rs34637004 0.03450
NM_198173.3(GRHL3):c.1451A>G (p.Asn484Ser) rs116396279 0.03385
NM_001199013.2(STPG1):c.738-3145C>T rs6694170 0.03111
NM_198173.3(GRHL3):c.1361C>T (p.Thr454Met) rs41268753 0.02296
NM_198173.3(GRHL3):c.1439C>A (p.Pro480His) rs142369311 0.01136
NM_198173.3(GRHL3):c.686+13C>T rs41268749 0.01061
NM_198173.3(GRHL3):c.1368C>T (p.Pro456=) rs114678222 0.01024
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) rs34593559 0.00737
NM_198173.3(GRHL3):c.1363C>G (p.Pro455Ala) rs141193530 0.00535
NM_198173.3(GRHL3):c.1430C>T (p.Ser477Leu) rs114518869 0.00431
NM_198173.3(GRHL3):c.507T>C (p.Asp169=) rs35868286 0.00307
NM_198173.3(GRHL3):c.471C>T (p.Ala157=) rs139093980 0.00185
NM_198173.3(GRHL3):c.781G>A (p.Val261Ile) rs145470039 0.00101
NM_198173.3(GRHL3):c.1159C>T (p.Arg387Cys) rs147284380 0.00093
NM_198173.3(GRHL3):c.1469G>A (p.Arg490His) rs138381915 0.00058
NM_198173.3(GRHL3):c.614C>T (p.Ser205Leu) rs201073516 0.00036
NM_198173.3(GRHL3):c.612+9G>A rs201895291 0.00033
NM_198173.3(GRHL3):c.205-3C>A rs200425622 0.00031
NM_198173.3(GRHL3):c.672C>T (p.Tyr224=) rs779916210 0.00001
NM_001199013.2(STPG1):c.738-3167C>T
NM_001199013.2(STPG1):c.738-3175G>A
NM_198173.3(GRHL3):c.1047+9T>G
NM_198173.3(GRHL3):c.117G>A (p.Pro39=)
NM_198173.3(GRHL3):c.1223T>C (p.Met408Thr)
NM_198173.3(GRHL3):c.1227C>T (p.Arg409=)
NM_198173.3(GRHL3):c.1287C>T (p.Gly429=)
NM_198173.3(GRHL3):c.1385A>G (p.Asn462Ser)
NM_198173.3(GRHL3):c.1419+10G>A rs2148660639
NM_198173.3(GRHL3):c.1419+1G>A rs879255244
NM_198173.3(GRHL3):c.1531G>A (p.Asp511Asn)
NM_198173.3(GRHL3):c.1534C>T (p.Leu512Phe)
NM_198173.3(GRHL3):c.17+13C>G
NM_198173.3(GRHL3):c.204+13C>G
NM_198173.3(GRHL3):c.204+14del
NM_198173.3(GRHL3):c.204+2T>C
NM_198173.3(GRHL3):c.221G>A (p.Arg74Gln)
NM_198173.3(GRHL3):c.318C>T (p.Pro106=)
NM_198173.3(GRHL3):c.348C>T (p.Asn116=)
NM_198173.3(GRHL3):c.472G>A (p.Gly158Ser)
NM_198173.3(GRHL3):c.550C>G (p.His184Asp) rs1166068949
NM_198173.3(GRHL3):c.686+11C>A
NM_198173.3(GRHL3):c.686+18G>C
NM_198173.3(GRHL3):c.790C>T (p.Arg264Trp)
NM_198173.3(GRHL3):c.797C>T (p.Pro266Leu)
NM_198173.3(GRHL3):c.899G>A (p.Trp300Ter) rs1553172687
NM_198173.3(GRHL3):c.933G>A (p.Lys311=)

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