ClinVar Miner

List of variants in gene SPRED1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.*3745A>G rs142928983 0.00080
NM_152594.3(SPRED1):c.*4471C>A rs574232846 0.00071
NM_152594.3(SPRED1):c.*4472C>A rs541556786 0.00071
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.*3192G>A rs566065329 0.00064
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_152594.3(SPRED1):c.*4304G>A rs537477031 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_152594.3(SPRED1):c.376+3A>T rs775985211 0.00015
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=) rs755223172 0.00005
NM_152594.3(SPRED1):c.685-8T>C rs760690837 0.00005
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val) rs200871227 0.00004
NM_152594.3(SPRED1):c.684+50A>T rs200338097 0.00003
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=) rs768937237 0.00002
NM_152594.3(SPRED1):c.33-1G>A rs1895105626 0.00001
NM_152594.3(SPRED1):c.384C>T (p.Pro128=) rs761058615 0.00001
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala) rs1421913267 0.00001
NM_152594.3(SPRED1):c.641G>A (p.Arg214Gln) rs371274407 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter) rs1172820756 0.00001
GRCh37/hg19 15q14(chr15:38466370-38578075)x1
GRCh37/hg19 15q14(chr15:38556565-38591748)x1
NM_152594.3(SPRED1):c.*3647T>G rs186366365
NM_152594.3(SPRED1):c.*578AT[13] rs147547509
NM_152594.3(SPRED1):c.1110C>T (p.Leu370=)
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.183T>G (p.Arg61=)
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val) rs1060502504
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys)
NM_152594.3(SPRED1):c.788A>G (p.His263Arg)
NM_152594.3(SPRED1):c.886T>A (p.Cys296Ser)
NM_152594.3(SPRED1):c.939G>T (p.Thr313=) rs140644874

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