ClinVar Miner

List of variants reported as uncertain significance by Claritas Genomics

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His) rs201111610 0.00092
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_006031.6(PCNT):c.644G>A (p.Cys215Tyr) rs138962786 0.00041
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_004667.6(HERC2):c.12757G>A (p.Ala4253Thr) rs145535698 0.00024
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile) rs146064054 0.00021
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801 0.00009
NM_001166114.2(PNPLA6):c.1205C>T (p.Ser402Leu) rs372193709 0.00009
NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) rs201894064 0.00006
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) rs377390031 0.00006
NM_017777.4(MKS1):c.1607G>A (p.Arg536Gln) rs746283445 0.00006
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139 0.00005
NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu) rs1060499719 0.00005
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln) rs730880596 0.00004
NM_001110556.2(FLNA):c.2023-6C>T rs372021340 0.00004
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) rs901081235 0.00002
NM_001365999.1(SZT2):c.9893G>A (p.Arg3298His) rs1060499723 0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_001371986.1(UNC80):c.400G>A (p.Gly134Ser) rs764575721 0.00001
NM_024570.4(RNASEH2B):c.136+8C>T rs891972892 0.00001
NM_181882.3(PRX):c.2335G>A (p.Ala779Thr) rs369505684 0.00001
NM_000124.4(ERCC6):c.2418C>G (p.Cys806Trp) rs375810438
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_001110556.2(FLNA):c.623-20_623-12del rs786205200
NM_001134407.3(GRIN2A):c.1778-3C>T rs1060499722
NM_001370658.1(BTD):c.164C>A (p.Ala55Asp) rs1060499720
NM_015634.4(KIFBP):c.167_187dup (p.Asp56_Glu62dup) rs767103634
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly) rs144234059
NM_021971.4(GMPPB):c.529A>G (p.Ile177Val) rs1060499721

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