ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease axonal type 2P

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_138361.5(LRSAM1):c.*590T>C rs139260397
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.102C>T (p.Leu34=) rs762785076
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp)
NM_138361.5(LRSAM1):c.1152C>T (p.Asp384=) rs760074620
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_138361.5(LRSAM1):c.1329C>T (p.Ile443=) rs771415278
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004
NM_138361.5(LRSAM1):c.1406G>A (p.Arg469Gln) rs369439346
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1515G>A (p.Ser505=) rs140066362
NM_138361.5(LRSAM1):c.1599+9_1599+10del rs1588134360
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) rs199997686
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1789C>T (p.Leu597=) rs1588137639
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.1912+10C>T rs1473393318
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) rs778625125
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.2028C>G (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2062C>A (p.Leu688Ile) rs765956865
NM_138361.5(LRSAM1):c.2094G>A (p.Gln698=) rs752678501
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.252+10C>T rs765686374
NM_138361.5(LRSAM1):c.253-9C>T rs199925705
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_138361.5(LRSAM1):c.498G>A (p.Pro166=) rs140809697
NM_138361.5(LRSAM1):c.513C>T (p.His171=) rs757426906
NM_138361.5(LRSAM1):c.529-6C>T rs754162095
NM_138361.5(LRSAM1):c.546C>T (p.Ala182=) rs956107977
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) rs545814024
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.619+14G>A rs770398029
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.6G>A (p.Pro2=) rs572330792
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn)
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.786G>A (p.Gln262=) rs748439646
NM_138361.5(LRSAM1):c.814C>T (p.Arg272Trp) rs149456922
NM_138361.5(LRSAM1):c.822G>A (p.Leu274=) rs146079606
NM_138361.5(LRSAM1):c.849G>A (p.Gln283=) rs375636993
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) rs200527839

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