ClinVar Miner

List of variants studied for Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00067
NM_000123.4(ERCC5):c.542A>G (p.His181Arg) rs4150295 0.00024
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000123.4(ERCC5):c.1232C>T (p.Thr411Met) rs2227872 0.00008
NM_000123.4(ERCC5):c.2842T>C (p.Phe948Leu) rs200001652 0.00007
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
NM_000123.4(ERCC5):c.2375C>T (p.Ala792Val) rs121434571 0.00003
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) rs759962943 0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val) rs375404851 0.00002
NM_000123.4(ERCC5):c.2039A>G (p.Gln680Arg) rs4987168 0.00001
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp) rs770975661 0.00001
NM_000123.4(ERCC5):c.3185A>G (p.Asn1062Ser) rs754375913 0.00001
NM_000123.4(ERCC5):c.3364C>T (p.Pro1122Ser) rs765714657 0.00001
NM_000123.4(ERCC5):c.1021T>A (p.Ser341Thr)
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.4(ERCC5):c.1160_1183delinsA (p.Thr387fs)
NM_000123.4(ERCC5):c.1173dup (p.Lys392Ter) rs1283214655
NM_000123.4(ERCC5):c.119A>T (p.Lys40Ile)
NM_000123.4(ERCC5):c.1463dup (p.Ser489fs)
NM_000123.4(ERCC5):c.1874A>C (p.Glu625Ala)
NM_000123.4(ERCC5):c.1924G>T (p.Glu642Ter)
NM_000123.4(ERCC5):c.1954+20T>C
NM_000123.4(ERCC5):c.223G>A (p.Val75Met)
NM_000123.4(ERCC5):c.2394C>G (p.Asp798Glu)
NM_000123.4(ERCC5):c.2431del (p.Ser811fs)
NM_000123.4(ERCC5):c.2533G>T (p.Gly845Ter)
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu) rs573839835
NM_000123.4(ERCC5):c.265-1G>T
NM_000123.4(ERCC5):c.265-2A>G
NM_000123.4(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.4(ERCC5):c.2836G>T (p.Gly946Ter)
NM_000123.4(ERCC5):c.35G>C (p.Cys12Ser)
NM_000123.4(ERCC5):c.410_411dup (p.Arg138fs)
NM_000123.4(ERCC5):c.592C>G (p.Pro198Ala) rs141369732
NM_000123.4(ERCC5):c.673-2A>G rs756420203
NM_000123.4(ERCC5):c.812del (p.Gly271fs)
NM_000123.4(ERCC5):c.897del (p.Val300fs)

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