ClinVar Miner

List of variants in gene NSD1 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 102
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HGVS dbSNP
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.1236+9C>A rs886042263
NM_022455.4(NSD1):c.1260A>G (p.Lys420=) rs1397377820
NM_022455.4(NSD1):c.1364T>C (p.Met455Thr) rs143585233
NM_022455.4(NSD1):c.1482C>T (p.Cys494=) rs1363405
NM_022455.4(NSD1):c.1515T>C (p.Asn505=) rs114747882
NM_022455.4(NSD1):c.153G>A (p.Ser51=) rs727504052
NM_022455.4(NSD1):c.1635G>A (p.Thr545=) rs371958844
NM_022455.4(NSD1):c.1666A>G (p.Asn556Asp) rs143571876
NM_022455.4(NSD1):c.1749G>A (p.Glu583=) rs3733874
NM_022455.4(NSD1):c.1770A>G (p.Leu590=) rs398124373
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1829A>G (p.Gln610Arg) rs142544192
NM_022455.4(NSD1):c.1840G>T (p.Val614Leu) rs3733875
NM_022455.4(NSD1):c.2103G>A (p.Lys701=) rs727504053
NM_022455.4(NSD1):c.2176T>C (p.Ser726Pro) rs28932178
NM_022455.4(NSD1):c.2266A>G (p.Asn756Asp) rs142657029
NM_022455.4(NSD1):c.2295C>T (p.Asn765=) rs146767413
NM_022455.4(NSD1):c.2309G>T (p.Gly770Val) rs375566261
NM_022455.4(NSD1):c.2349del (p.Lys783fs) rs398124374
NM_022455.4(NSD1):c.2350C>G (p.Gln784Glu) rs374740802
NM_022455.4(NSD1):c.2399T>C (p.Met800Thr) rs142023792
NM_022455.4(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2711A>C (p.Asp904Ala) rs398124375
NM_022455.4(NSD1):c.2765C>T (p.Thr922Met) rs753460351
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.2915del (p.Thr972fs) rs1554189879
NM_022455.4(NSD1):c.2985A>G (p.Leu995=) rs398124376
NM_022455.4(NSD1):c.3000C>T (p.Ser1000=) rs150854966
NM_022455.4(NSD1):c.3088T>C (p.Leu1030=) rs61756006
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3110A>G (p.Gln1037Arg) rs794727735
NM_022455.4(NSD1):c.3150C>T (p.Thr1050=) rs144257298
NM_022455.4(NSD1):c.3154C>T (p.Arg1052Cys) rs748956033
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.4(NSD1):c.3272T>G (p.Leu1091Arg)
NM_022455.4(NSD1):c.3382dup (p.Ser1128fs) rs886043780
NM_022455.4(NSD1):c.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.4(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) rs150296373
NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.4(NSD1):c.3558C>G (p.Ala1186=) rs398124377
NM_022455.4(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669
NM_022455.4(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409
NM_022455.4(NSD1):c.3705T>C (p.Asn1235=) rs28932181
NM_022455.4(NSD1):c.3762C>T (p.Pro1254=) rs794727734
NM_022455.4(NSD1):c.4058_4061del (p.Glu1353fs) rs1554195857
NM_022455.4(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_022455.4(NSD1):c.4303-4A>G rs775759198
NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) rs150920473
NM_022455.4(NSD1):c.4498-10del rs200890017
NM_022455.4(NSD1):c.4520C>T (p.Thr1507Met) rs144900277
NM_022455.4(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.4(NSD1):c.4642-7T>C rs183928380
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.4844A>G (p.Tyr1615Cys) rs398124378
NM_022455.4(NSD1):c.4858G>A (p.Val1620Ile) rs774169673
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437
NM_022455.4(NSD1):c.5021G>C (p.Cys1674Ser) rs587784135
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(NSD1):c.5458G>A (p.Val1820Met) rs752685166
NM_022455.4(NSD1):c.5520A>G (p.Glu1840=) rs140815139
NM_022455.4(NSD1):c.5635A>G (p.Ile1879Val) rs746599803
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.4(NSD1):c.6152-14G>A rs587784182
NM_022455.4(NSD1):c.6152-1G>A rs886044326
NM_022455.4(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.4(NSD1):c.6385C>G (p.Gln2129Glu) rs1562305721
NM_022455.4(NSD1):c.6440dup (p.Asn2148fs) rs886042725
NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) rs146601031
NM_022455.4(NSD1):c.6463+1G>A rs398124381
NM_022455.4(NSD1):c.6464-5T>C rs545039997
NM_022455.4(NSD1):c.6464-8G>T rs577262396
NM_022455.4(NSD1):c.6464-8_6464-5delinsTTTC rs1554207223
NM_022455.4(NSD1):c.6533G>A (p.Cys2178Tyr) rs398124382
NM_022455.4(NSD1):c.6538_6539insC (p.Ser2180fs) rs398124383
NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) rs35848863
NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) rs34165241
NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) rs28580074
NM_022455.4(NSD1):c.6887T>C (p.Val2296Ala) rs754309202
NM_022455.4(NSD1):c.6903G>C (p.Gly2301=) rs11740250
NM_022455.4(NSD1):c.7033G>T (p.Val2345Phe) rs398124384
NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824
NM_022455.4(NSD1):c.7597C>G (p.Leu2533Val) rs398124386
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7632C>T (p.Ala2544=) rs886042468
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7742A>G (p.Lys2581Arg) rs398124387
NM_022455.4(NSD1):c.7779C>T (p.Ala2593=) rs398124388
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_022455.4(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615
NM_022455.4(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140
NM_172349.2(NSD1):c.2548C>G (p.Pro850Ala) rs727504054
NM_172349.2(NSD1):c.31-85_31-83del rs398124385
NM_172349.2(NSD1):c.3997G>A (p.Asp1333Asn) rs727504055
NM_172349.2(NSD1):c.4472_4475del (p.Val1491fs) rs398124379

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