ClinVar Miner

List of variants reported as uncertain significance by Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_170606.3(KMT2C):c.925C>T (p.Pro309Ser) rs138627563 0.00570
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser) rs148939995 0.00191
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_004993.6(ATXN3):c.776-3C>T rs201992162 0.00073
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln) rs142068634 0.00016
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_000083.3(CLCN1):c.2681G>A (p.Arg894Gln) rs145412643 0.00009
NM_181882.3(PRX):c.4219T>G (p.Ser1407Ala) rs146468976 0.00006
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val) rs202185764 0.00005
NM_004380.3(CREBBP):c.69G>A (p.Ser23=) rs766095612 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile) rs145082960 0.00003
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) rs751515136 0.00001
NM_004977.3(KCNC3):c.1768G>A (p.Gly590Ser) rs1167185763 0.00001
NM_007118.4(TRIO):c.3066+5G>A rs1419486837 0.00001
NM_015346.4(ZFYVE26):c.2429G>A (p.Arg810Gln) rs1395832064 0.00001
NM_018972.4(GDAP1):c.620A>C (p.Lys207Thr) rs140384868 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001128164.2(ATXN1):c.1563G>C (p.Thr521=) rs528819863
NM_001267550.2(TTN):c.14920A>C (p.Thr4974Pro) rs1050370854
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.