ClinVar Miner

List of variants reported as likely pathogenic by Genetics Department, Polish Mother's Memorial Hospital Research Institute

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) rs765695793 0.00001
NM_002335.4(LRP5):c.3005G>A (p.Arg1002Gln) rs779935967 0.00001
GRCh38/hg38 17p13.3(chr17:2500691-2687314)
GRCh38/hg38 2p16.3(chr2:50590007-50802034)
GRCh38/hg38 5q23.1(chr5:119555413-119745470)
GRCh38/hg38 Xq28(chrX:152819425-152869723)
NC_000002.12:g.(?_1852302)_(2191394_?)dup
NC_000007.14:g.(?_94402140)_(94406279_?)del
NC_000023.11:g.(?_80671287)_(80671570_?)dup
NM_000088.4(COL1A1):c.1002+5G>T rs1907566530
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) rs1555574151
NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala) rs1907512918
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) rs1598290382
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) rs72653141
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala) rs1598288656
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala) rs1598288634
NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala) rs72654797
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val)
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val) rs1598300054
NM_000088.4(COL1A1):c.733G>T (p.Gly245Trp) rs1598299275
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) rs762653813
NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp) rs1584319418
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys) rs1791894410
NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del) rs1791907178
NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val) rs1584322737
NM_000089.4(COL1A2):c.2295+5G>A
NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)
NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val) rs1584330959
NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly) rs1584316181
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys) rs1064794058
NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg) rs1584318953
NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp) rs1131692167
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser) rs72656389
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser) rs1054264002
NM_000216.4(ANOS1):c.313del (p.Cys105fs) rs1601988004
NM_000527.5(LDLR):c.373_379del (p.Gln125fs) rs2147223487
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
NM_001354712.2(THRB):c.1357_1358delinsAA (p.Pro453Asn)
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly) rs1555939415
NM_023110.3(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.3(FGFR1):c.275_289del (p.Val92_Ser96del) rs1586375906
NM_138711.6(PPARG):c.353G>A (p.Gly118Glu) rs2125177235

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