ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from OMIM and "likely pathogenic" from any submitter

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Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_007098.4(CLTCL1):c.988G>A (p.Glu330Lys) rs199652160 0.00053
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn) rs200406024 0.00016
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly) rs375215655 0.00009
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp) rs201012962 0.00002
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_024711.6(GIMAP6):c.257G>A (p.Trp86Ter) rs767832540 0.00001
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093 0.00001
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001128636.4(ELFN1):c.42_49del (p.Ala15fs) rs2128605586
NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del) rs587777099
NM_003358.3(UGCG):c.142dup (p.Ser48fs) rs2118539976
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_013438.5(UBQLN1):c.377del (p.Asn126fs) rs1060499753
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs) rs768842269
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) rs771745123
NM_198904.4(GABRG2):c.247C>T (p.Pro83Ser) rs587777365

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