ClinVar Miner

List of variants in gene SCAPER studied for Intellectual developmental disorder and retinitis pigmentosa; IDDRP

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_020843.4(SCAPER):c.2645+36T>C rs280021 0.99164
NM_020843.4(SCAPER):c.772+1881G>T rs3102707 0.96845
NM_020843.4(SCAPER):c.-42T>A rs3812909 0.32139
NM_020843.4(SCAPER):c.1A>G (p.Met1Val) rs3812908 0.32136
NM_020843.4(SCAPER):c.3705+3A>G rs3765115 0.31626
NM_020843.4(SCAPER):c.3078+39G>T rs11072597 0.27073
NM_020843.4(SCAPER):c.612-4A>G rs11852395 0.26001
NM_020843.4(SCAPER):c.95G>A (p.Ser32Asn) rs114705075 0.00987
NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter) rs757834403 0.00002
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter) rs1239725461 0.00001
NM_020843.4(SCAPER):c.3065T>C (p.Ile1022Thr) rs780523439 0.00001
NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn) rs1305542291 0.00001
NM_020843.3(SCAPER):c.1859_1861del (p.Glu620del) rs1395475624
NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs) rs1555447569
NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter) rs777893794
NM_020843.4(SCAPER):c.1116del (p.Val373fs) rs1598632432
NM_020843.4(SCAPER):c.125-1G>A rs2151864247
NM_020843.4(SCAPER):c.1250C>T (p.Ser417Phe)
NM_020843.4(SCAPER):c.1382A>T (p.Asp461Val)
NM_020843.4(SCAPER):c.1495+1G>A rs1598598205
NM_020843.4(SCAPER):c.1883T>C (p.Phe628Ser)
NM_020843.4(SCAPER):c.2023-2A>G rs1555558169
NM_020843.4(SCAPER):c.213T>G (p.Cys71Trp)
NM_020843.4(SCAPER):c.2166-3C>G rs1598279469
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter) rs978336151
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs) rs1462082548
NM_020843.4(SCAPER):c.2364T>A (p.Tyr788Ter)
NM_020843.4(SCAPER):c.2653del (p.Glu885fs) rs1597752941
NM_020843.4(SCAPER):c.2955-1G>T rs2050148457
NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs) rs761149240
NM_020843.4(SCAPER):c.3431A>G (p.His1144Arg)
NM_020843.4(SCAPER):c.3661C>T (p.Arg1221Cys)
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs) rs1303625185
NM_020843.4(SCAPER):c.3969del (p.Ala1324fs)
NM_020843.4(SCAPER):c.776G>A (p.Arg259Gln)
NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter) rs1484749107

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