ClinVar Miner

List of variants in gene SPRED1 reported as uncertain significance for not provided

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.1273A>G (p.Met425Val) rs368307475 0.00006
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His) rs369492789 0.00006
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920 0.00005
NM_152594.3(SPRED1):c.-18G>T rs755489788 0.00003
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys) rs765788978 0.00003
NM_152594.3(SPRED1):c.684+50A>T rs200338097 0.00003
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile) rs752958999 0.00001
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913 0.00001
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly) rs959758606 0.00001
NM_152594.3(SPRED1):c.196A>C (p.Arg66=) rs751923342 0.00001
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile) rs369150309 0.00001
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr) rs761473300 0.00001
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala) rs1421913267 0.00001
NM_152594.3(SPRED1):c.700A>G (p.Ile234Val) rs1199792537 0.00001
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys) rs886041428 0.00001
NM_152594.3(SPRED1):c.920A>G (p.Asp307Gly) rs764868020 0.00001
GRCh37/hg19 15q14(chr15:38533577-38587586)x3
NM_152594.3(SPRED1):c.-134C>T
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser) rs2141016537
NM_152594.3(SPRED1):c.1119G>T (p.Glu373Asp) rs1085307754
NM_152594.3(SPRED1):c.1145A>T (p.Asp382Val)
NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg) rs2140943407
NM_152594.3(SPRED1):c.208-12G>A
NM_152594.3(SPRED1):c.236A>G (p.Asp79Gly) rs2140994779
NM_152594.3(SPRED1):c.299G>T (p.Gly100Val) rs1555391048
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro) rs1595746820
NM_152594.3(SPRED1):c.311A>G (p.Gln104Arg) rs748376033
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln)
NM_152594.3(SPRED1):c.354A>T (p.Arg118Ser) rs2140994930
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)
NM_152594.3(SPRED1):c.49G>C (p.Val17Leu) rs1895106351
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val) rs1060502504
NM_152594.3(SPRED1):c.583-11_583-8del
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser) rs1555392598
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr) rs2141014869
NM_152594.3(SPRED1):c.66G>T (p.Met22Ile) rs1555389685
NM_152594.3(SPRED1):c.71_72delinsTT (p.Arg24Leu) rs2140978413
NM_152594.3(SPRED1):c.722A>G (p.Asp241Gly) rs2141016047
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly) rs1057524159
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys) rs2141016090
NM_152594.3(SPRED1):c.788A>G (p.His263Arg)
NM_152594.3(SPRED1):c.893A>G (p.Asp298Gly)
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala) rs1888477050
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly) rs1057518683

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