ClinVar Miner

List of variants in gene CHRNG reported as uncertain significance for autosomal recessive multiple pterygium syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_005199.5(CHRNG):c.*126C>T rs369614677
NM_005199.5(CHRNG):c.*131C>T rs566877095
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.*609_*612dup rs57021172
NM_005199.5(CHRNG):c.*611_*612dup rs57021172
NM_005199.5(CHRNG):c.1030C>T (p.Arg344Cys) rs554907332
NM_005199.5(CHRNG):c.1036-8CT[2] rs3217418
NM_005199.5(CHRNG):c.1074C>T (p.His358=) rs761581720
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186
NM_005199.5(CHRNG):c.1213C>T (p.Arg405Trp) rs760473901
NM_005199.5(CHRNG):c.1230G>A (p.Ala410=) rs144948513
NM_005199.5(CHRNG):c.1259C>T (p.Pro420Leu) rs146674765
NM_005199.5(CHRNG):c.129C>T (p.Pro43=) rs151276788
NM_005199.5(CHRNG):c.1378A>G (p.Asn460Asp) rs138232636
NM_005199.5(CHRNG):c.1381G>A (p.Gly461Arg) rs143800157
NM_005199.5(CHRNG):c.1423G>A (p.Val475Ile) rs764228635
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651
NM_005199.5(CHRNG):c.1528C>T (p.Arg510Cys) rs762066089
NM_005199.5(CHRNG):c.196-9C>T rs182635953
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131
NM_005199.5(CHRNG):c.357C>T (p.Asp119=) rs749995118
NM_005199.5(CHRNG):c.367G>A (p.Glu123Lys) rs199937736
NM_005199.5(CHRNG):c.460G>A (p.Val154Ile) rs756232748
NM_005199.5(CHRNG):c.471C>T (p.Phe157=) rs143272752
NM_005199.5(CHRNG):c.474C>T (p.Pro158=) rs145907618
NM_005199.5(CHRNG):c.543G>A (p.Gln181=) rs753990044
NM_005199.5(CHRNG):c.57G>C (p.Gly19=) rs753421728
NM_005199.5(CHRNG):c.737T>A (p.Ile246Asn) rs139998228
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827
NM_005199.5(CHRNG):c.806-13C>T rs375760045
NM_005199.5(CHRNG):c.928A>T (p.Thr310Ser) rs145830034
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104

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