ClinVar Miner

List of variants in gene NSD1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) rs770522999 0.00003
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln) rs753389957 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.8014A>G (p.Lys2672Glu) rs370095667 0.00002
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr) rs756449994 0.00001
NM_022455.5(NSD1):c.3931C>T (p.Arg1311Cys) rs886060443 0.00001
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) rs1388537733 0.00001
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala) rs1418961998 0.00001
NM_022455.5(NSD1):c.7402C>T (p.Arg2468Trp) rs767815479 0.00001
NM_022455.5(NSD1):c.1064-5C>A rs961502921
NM_022455.5(NSD1):c.1078C>T (p.Pro360Ser)
NM_022455.5(NSD1):c.140C>G (p.Thr47Ser) rs1562097679
NM_022455.5(NSD1):c.1685A>G (p.Asn562Ser)
NM_022455.5(NSD1):c.1745T>C (p.Phe582Ser)
NM_022455.5(NSD1):c.1778T>C (p.Leu593Ser)
NM_022455.5(NSD1):c.1790C>G (p.Ala597Gly)
NM_022455.5(NSD1):c.1801A>C (p.Lys601Gln)
NM_022455.5(NSD1):c.1940G>A (p.Ser647Asn)
NM_022455.5(NSD1):c.2045A>C (p.Glu682Ala)
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly) rs1581318727
NM_022455.5(NSD1):c.2186A>G (p.Asn729Ser)
NM_022455.5(NSD1):c.2194G>C (p.Asp732His)
NM_022455.5(NSD1):c.2229G>C (p.Gln743His)
NM_022455.5(NSD1):c.2407C>T (p.Pro803Ser)
NM_022455.5(NSD1):c.242T>C (p.Met81Thr)
NM_022455.5(NSD1):c.2473G>T (p.Ala825Ser)
NM_022455.5(NSD1):c.2552A>T (p.Asp851Val)
NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala)
NM_022455.5(NSD1):c.274G>A (p.Asp92Asn)
NM_022455.5(NSD1):c.2800G>T (p.Val934Phe)
NM_022455.5(NSD1):c.2815_2817dup (p.Pro939_Gly940insPro)
NM_022455.5(NSD1):c.2909A>G (p.Asp970Gly)
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
NM_022455.5(NSD1):c.3056G>C (p.Arg1019Pro)
NM_022455.5(NSD1):c.3197C>G (p.Ala1066Gly)
NM_022455.5(NSD1):c.3224G>A (p.Gly1075Glu) rs1562212091
NM_022455.5(NSD1):c.3242G>C (p.Gly1081Ala)
NM_022455.5(NSD1):c.3247G>A (p.Glu1083Lys)
NM_022455.5(NSD1):c.3340G>T (p.Val1114Phe)
NM_022455.5(NSD1):c.3442C>G (p.Leu1148Val)
NM_022455.5(NSD1):c.3485G>A (p.Arg1162His)
NM_022455.5(NSD1):c.3563G>A (p.Arg1188Lys)
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val) rs1581327291
NM_022455.5(NSD1):c.3763A>C (p.Ser1255Arg)
NM_022455.5(NSD1):c.3794C>G (p.Pro1265Arg)
NM_022455.5(NSD1):c.37C>A (p.Leu13Met)
NM_022455.5(NSD1):c.4049C>T (p.Pro1350Leu)
NM_022455.5(NSD1):c.4211G>A (p.Arg1404His)
NM_022455.5(NSD1):c.4760G>A (p.Arg1587His)
NM_022455.5(NSD1):c.482A>T (p.Asp161Val)
NM_022455.5(NSD1):c.4876A>G (p.Thr1626Ala)
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe) rs587784129
NM_022455.5(NSD1):c.490G>A (p.Val164Ile)
NM_022455.5(NSD1):c.5009C>G (p.Ala1670Gly)
NM_022455.5(NSD1):c.5639G>A (p.Gly1880Asp) rs768219323
NM_022455.5(NSD1):c.5937A>T (p.Glu1979Asp)
NM_022455.5(NSD1):c.5992A>G (p.Met1998Val)
NM_022455.5(NSD1):c.6146A>C (p.Lys2049Thr)
NM_022455.5(NSD1):c.6184T>C (p.Cys2062Arg)
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) rs1759549616
NM_022455.5(NSD1):c.6474_6476del (p.Glu2158_Cys2159delinsAsp)
NM_022455.5(NSD1):c.6479C>T (p.Pro2160Leu)
NM_022455.5(NSD1):c.7126G>A (p.Glu2376Lys)
NM_022455.5(NSD1):c.7390C>T (p.Arg2464Cys)
NM_022455.5(NSD1):c.7568C>T (p.Ser2523Leu)
NM_022455.5(NSD1):c.7643T>C (p.Leu2548Ser)
NM_022455.5(NSD1):c.7684G>C (p.Gly2562Arg)
NM_022455.5(NSD1):c.7831C>G (p.Pro2611Ala)
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
NM_022455.5(NSD1):c.7974G>C (p.Leu2658Phe)
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg) rs1189702665
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)

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