ClinVar Miner

List of variants reported as likely benign by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_017886.4(ULK4):c.2056G>A (p.Val686Ile) rs77615850 0.00402
NM_017886.4(ULK4):c.2887G>A (p.Val963Met) rs188590896 0.00385
NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser) rs138340204 0.00335
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_017886.4(ULK4):c.2584C>T (p.Arg862Ter) rs199884004 0.00282
NM_001330078.2(NRXN1):c.3365-110131T>G rs193267438 0.00279
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln) rs148245202 0.00020
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg) rs189437004 0.00009
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His) rs144902457 0.00005
NM_020137.5(GRIPAP1):c.1105G>C (p.Glu369Gln) rs782702449 0.00004
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443 0.00003
NM_003737.4(DCHS1):c.4114G>A (p.Gly1372Ser) rs869312675 0.00003
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) rs144098296 0.00003
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys) rs202095767 0.00001
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln) rs377550239
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe) rs869312682
NM_033225.6(CSMD1):c.1642A>G (p.Thr548Ala) rs768680532

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