List of variants reported as pathogenic by Medical Genetics Laboratory, West China Hospital, Sichuan University

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_005993.5(TBCD):c.1433A>G (p.Tyr478Cys)	rs756576748	0.00006
NM_000693.4(ALDH1A3):c.287G>A (p.Arg96His)	rs1470193684	0.00001
NM_000693.4(ALDH1A3):c.709G>A (p.Gly237Arg)	rs1164081840	0.00001
NM_005340.7(HINT1):c.355C>T (p.Arg119Trp)	rs768248277	0.00001
NM_000089.4(COL1A2):c.2133+6T>A	rs72658164
NM_000130.5(F5):c.4096del (p.Leu1366fs)	rs1659825695
NM_000264.5(PTCH1):c.2256_2259del (p.Val753fs)	rs1840114155
NM_000359.3(TGM1):c.1019G>A (p.Gly340Glu)	rs867950920
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp)	rs121918731
NM_000554.6(CRX):c.292C>T (p.Arg98Ter)	rs751018117
NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs)	rs1848926281
NM_001999.4(FBN2):c.533-1G>C	rs1756369186
NM_003611.3(OFD1):c.599T>C (p.Leu200Pro)	rs2047299277
NM_004329.3(BMPR1A):c.1114A>T (p.Lys372Ter)	rs1315674155
NM_005993.5(TBCD):c.2693+1G>A	rs779861227

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