ClinVar Miner

List of variants in gene CHRNG studied for lethal multiple pterygium syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_005199.5(CHRNG):c.195+14C>T rs200640510 0.00299
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752 0.00120
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00078
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034 0.00077
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_005199.5(CHRNG):c.82C>T (p.Arg28Cys) rs140623763 0.00057
NM_005199.5(CHRNG):c.132G>A (p.Ala44=) rs141402683 0.00050
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_005199.5(CHRNG):c.507-12G>A rs184423691 0.00036
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys) rs199937736 0.00019
NM_005199.5(CHRNG):c.426G>A (p.Pro142=) rs375894671 0.00017
NM_005199.5(CHRNG):c.573G>A (p.Glu191=) rs771417982 0.00012
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_005199.5(CHRNG):c.1012T>C (p.Ser338Pro) rs776733115 0.00008
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) rs151276788 0.00008
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn) rs139998228 0.00008
NM_005199.5(CHRNG):c.130G>A (p.Ala44Thr) rs186589083 0.00007
NM_005199.5(CHRNG):c.806-13C>T rs375760045 0.00006
NM_005199.5(CHRNG):c.913A>G (p.Ile305Val) rs142582718 0.00005
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118 0.00004
NM_005199.5(CHRNG):c.397del (p.Ser133fs) rs780249576 0.00004
NM_005199.5(CHRNG):c.239T>C (p.Met80Thr) rs1222999452 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) rs756232748 0.00003
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) rs554907332 0.00002
NM_005199.5(CHRNG):c.167A>C (p.Lys56Thr) rs376314818 0.00002
NM_005199.5(CHRNG):c.57G>C (p.Gly19=) rs753421728 0.00002
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter) rs1559302834 0.00001
NM_005199.5(CHRNG):c.394G>A (p.Val132Met) rs781249093 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.5A>T (p.His2Leu) rs775592546 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005199.5(CHRNG):c.196-9C>T rs182635953
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_005199.5(CHRNG):c.234A>T (p.Ile78=) rs1691992464
NM_005199.5(CHRNG):c.240+1del rs777809198
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726
NM_005199.5(CHRNG):c.351-2A>G
NM_005199.5(CHRNG):c.440G>T (p.Arg147Leu) rs144323121
NM_005199.5(CHRNG):c.474C>T (p.Pro158=) rs145907618
NM_005199.5(CHRNG):c.708C>T (p.Leu236=) rs1308873617
NM_005199.5(CHRNG):c.710_711delinsAA (p.Ile237Lys) rs1574645121
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)

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