ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001082971.2(DDC):c.1357C>T (p.Arg453Cys) rs142110773 0.00001
NM_030973.4(MED25):c.556C>T (p.Arg186Trp) rs776291104 0.00001
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1
GRCh37/hg19 2p23.3(chr2:24807000-25700000)x3
GRCh37/hg19 2q31.1(chr2:172344870-173038935)x4
GRCh37/hg19 5q31.1(chr5:131484039-132998360)x3
NCBI36/hg18 16q24.3(chr16:87891000-88572000)
NC_000008.10:g.[103335671_103389222del;103662755_103870397del]
NM_000460.4(THPO):c.-47del rs1714397896
NM_003106.4(SOX2):c.20C>T (p.Thr7Met) rs1714834018
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu) rs1334099693
NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val) rs1564120661
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_006445.4(PRPF8):c.5619+2T>C rs1911406583
NM_018486.3(HDAC8):c.104_105del (p.Pro35fs) rs1556165162
NM_030973.4(MED25):c.1919del (p.Pro640fs) rs1223073957
NM_153603.4(COG7):c.1476-1G>T rs1555493029
NM_153603.4(COG7):c.2T>C (p.Met1Thr) rs1555497604
NM_201596.3(CACNB2):c.208C>T (p.Arg70Cys) rs760538597
Single allele

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