ClinVar Miner

Variants with conflicting interpretations "likely benign" from Eurofins NTD LLC (GA) and "uncertain significance" from Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 76
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HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00399
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_012254.3(SLC27A5):c.1160G>A (p.Arg387Gln) rs142672241 0.00331
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000780.4(CYP7A1):c.1192C>G (p.Pro398Ala) rs142708991 0.00290
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) rs34096980 0.00245
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg) rs148372053 0.00204
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) rs28544073 0.00184
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_001127649.3(PEX26):c.409G>C (p.Val137Leu) rs142648687 0.00179
NM_000287.4(PEX6):c.1171G>A (p.Glu391Lys) rs150046979 0.00175
NM_012254.3(SLC27A5):c.1229G>A (p.Gly410Glu) rs149709084 0.00173
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801 0.00172
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_001378615.1(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641 0.00142
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu) rs115534729 0.00137
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) rs115488133 0.00124
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_018668.5(VPS33B):c.1148T>C (p.Ile383Thr) rs149121639 0.00114
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr) rs76086153 0.00080
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile) rs143895253 0.00055
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_000137.4(FAH):c.715A>T (p.Ile239Phe) rs144228661 0.00012
NM_004006.3(DMD):c.7016A>G (p.His2339Arg) rs398124041 0.00001
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del) rs41550117
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
Single allele

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