ClinVar Miner

List of variants reported as pathogenic for chromosomal disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003
NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs) rs875989830
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter) rs878853163
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu) rs1553538919
NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs) rs2146830613
NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)
NM_001372044.2(SHANK3):c.3988dup (p.Arg1330fs) rs1603447135
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) rs1555307370
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs) rs1060499934
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter) rs869312694
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter) rs1554642022
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232

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