ClinVar Miner

List of variants studied for chromosomal disorder by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154 0.00001
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)
GRCh37/hg19 15q11.2(chr15:22833525-23412276)
GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579)
GRCh37/hg19 17p11.2(chr17:16664739-20370783)
GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212)
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
GRCh37/hg19 7q11.23(chr7:72717395-74173168)
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) rs104894621
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met) rs80338957
NM_001211.6(BUB1B):c.2636dup (p.His880fs) rs2140908210
NM_001372044.2(SHANK3):c.2914_2948del (p.Asp972fs)
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu) rs1064797002
NM_001379200.1(TBX1):c.1214C>G (p.Pro405Arg)
NM_002397.5(MEF2C):c.402+1G>A
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_022455.5(NSD1):c.2137dup (p.Met713fs) rs1581318949
NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs) rs2127257484
NM_022455.5(NSD1):c.5858G>T (p.Gly1953Val)
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter) rs1581558015
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr) rs2127280285
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)

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