ClinVar Miner

List of variants in gene LOC126807619, NSD1 studied for chromosomal disorder

Included ClinVar conditions (211):
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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.5458G>A (p.Val1820Met) rs752685166 0.00001
NM_022455.4(NSD1):c.5408_5411delACTAins9
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022455.5(NSD1):c.5304-2A>G
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter) rs587784142
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5356_5360del (p.Lys1786fs)
NM_022455.5(NSD1):c.5357A>G (p.Lys1786Arg)
NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)
NM_022455.5(NSD1):c.5374G>A (p.Gly1792Arg)
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu) rs587784143
NM_022455.5(NSD1):c.5390T>C (p.Leu1797Pro) rs587784144
NM_022455.5(NSD1):c.5390_5397dup (p.Gly1800fs)
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs) rs587784145
NM_022455.5(NSD1):c.5401dup (p.Ser1801fs)
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter) rs797045823
NM_022455.5(NSD1):c.5419A>C (p.Thr1807Pro) rs587784146
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter) rs587784147
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln) rs587784149
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter) rs1757804086
NM_022455.5(NSD1):c.5456A>G (p.Asp1819Gly)
NM_022455.5(NSD1):c.5471A>G (p.Asp1824Gly) rs587784150
NM_022455.5(NSD1):c.5474dup (p.Met1826fs) rs1757806263
NM_022455.5(NSD1):c.5503A>G (p.Lys1835Glu)
NM_022455.5(NSD1):c.5509+1G>A rs1757808917

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