ClinVar Miner

List of variants reported as likely pathogenic by Medical Genetics Lab,Policlinico S. Orsola.Malpighi

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Total variants: 7
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HGVS dbSNP
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) rs142110773
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) rs1334099693
NM_005445.3(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_030973.3(MED25):c.556C>T (p.Arg186Trp) rs776291104
NM_153603.4(COG7):c.2T>C (p.Met1Thr) rs1555497604
Single allele

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