ClinVar Miner

List of variants in gene POMT1 reported as likely benign for cobblestone lissencephaly

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_007171.3(POMT1):c.1052+9A>G rs202095070
NM_007171.3(POMT1):c.111G>C (p.Pro37=) rs761641734
NM_007171.3(POMT1):c.1134A>G (p.Val378=) rs1280401262
NM_007171.3(POMT1):c.1182T>C (p.Pro394=) rs146945848
NM_007171.3(POMT1):c.1514G>A (p.Ser505Asn) rs750937093
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1892-7_1892-6delinsAA rs1064793740
NM_007171.3(POMT1):c.2097C>T (p.Ser699=) rs778418119
NM_007171.3(POMT1):c.2133C>T (p.His711=) rs141895982
NM_007171.3(POMT1):c.2244G>A (p.Ter748=) rs147143094
NM_007171.3(POMT1):c.280+7_280+8del rs561658895
NM_007171.3(POMT1):c.285C>T (p.Tyr95=) rs1554772428
NM_007171.3(POMT1):c.30G>A (p.Val10=) rs201533471
NM_007171.3(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_007171.3(POMT1):c.568C>T (p.Leu190=) rs752931210
NM_007171.3(POMT1):c.912C>T (p.Ala304=) rs886043307
NM_007171.3(POMT1):c.993C>T (p.Asn331=) rs753694905

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