ClinVar Miner

List of variants in gene CHRNG, TIGD1 studied for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_005199.5(CHRNG):c.*77T>C rs11690038 0.02138
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_005199.5(CHRNG):c.*351G>A rs111802317 0.00258
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_005199.5(CHRNG):c.*207T>C rs147814126 0.00065
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu) rs146674765 0.00038
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157 0.00032
NM_005199.5(CHRNG):c.1075G>A (p.Val359Ile) rs16829208 0.00021
NM_005199.5(CHRNG):c.1118G>A (p.Arg373Gln) rs144755776 0.00018
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) rs138232636 0.00016
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_005199.5(CHRNG):c.*194G>A rs975418556 0.00009
NM_005199.5(CHRNG):c.*131C>T rs566877095 0.00008
NM_005199.5(CHRNG):c.*201G>C rs144523413 0.00008
NM_005199.5(CHRNG):c.*126C>T rs369614677 0.00007
NM_005199.5(CHRNG):c.*388G>C rs914603576 0.00007
NM_005199.5(CHRNG):c.1145C>T (p.Ser382Leu) rs774121021 0.00006
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=) rs144948513 0.00006
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) rs764228635 0.00005
NM_005199.5(CHRNG):c.*593T>C rs1033983635 0.00003
NM_005199.5(CHRNG):c.*7C>T rs1034629827 0.00003
NM_005199.5(CHRNG):c.1074C>T (p.His358=) rs761581720 0.00002
NM_005199.5(CHRNG):c.1178T>C (p.Leu393Pro) rs1360277075 0.00002
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys) rs762066089 0.00002
NM_005199.5(CHRNG):c.*69T>G rs1259742484 0.00001
NM_005199.5(CHRNG):c.1408C>T (p.Arg470Ter) rs121912671 0.00001
NM_005199.5(CHRNG):c.*181T>C rs944288485
NM_005199.5(CHRNG):c.*291C>G rs1044726391
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_005199.5(CHRNG):c.*508T>C rs886055787
NM_005199.5(CHRNG):c.*589_*590dup rs1553578775
NM_005199.5(CHRNG):c.*591_*592insTT rs1553578776
NM_005199.5(CHRNG):c.*592C>T rs72991940
NM_005199.5(CHRNG):c.*592_*598del rs199761478
NM_005199.5(CHRNG):c.*609_*612dup rs57021172
NM_005199.5(CHRNG):c.*611_*612dup rs57021172
NM_005199.5(CHRNG):c.1036-8CT[2] rs3217418
NM_005199.5(CHRNG):c.1105G>A (p.Asp369Asn) rs1406594207
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter) rs1055176338
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) rs760473901
NM_005199.5(CHRNG):c.1227G>A (p.Val409=) rs1692086043
NM_005199.5(CHRNG):c.1366_1367del (p.His457fs) rs1309599304

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