ClinVar Miner

Variants with conflicting interpretations "benign" from Mendelics and "likely pathogenic" from any submitter

Minimum review status of the submission from Mendelics: Collection method of the submission from Mendelics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 28
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000159.4(GCDH):c.*165A>G rs8012 0.64188
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_000159.4(GCDH):c.*288G>T rs9384 0.33464
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala) rs36117895 0.03931
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000505.4(F12):c.1027G>C (p.Ala343Pro) rs183643295 0.00115
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_021969.3(NR0B2):c.157_166del (p.His53fs) rs540387719

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