ClinVar Miner

List of variants in gene COL6A1 reported as likely benign for Bethlem myopathy 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_001848.2(COL6A1):c.1029A>C (p.Pro343=) rs1556425843
NM_001848.2(COL6A1):c.1047C>T (p.Pro349=) rs202227298
NM_001848.2(COL6A1):c.105C>G (p.Pro35=) rs145579577
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1227G>A (p.Ala409=) rs557250335
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) rs144887329
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1399-8C>G rs749529856
NM_001848.2(COL6A1):c.1462-8C>T rs199849694
NM_001848.2(COL6A1):c.1602C>T (p.Pro534=) rs143755280
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.162C>T (p.Pro54=) rs775062782
NM_001848.2(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858
NM_001848.2(COL6A1):c.1741-6G>A rs200334019
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=) rs148439285
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.2(COL6A1):c.2022G>A (p.Val674=) rs764099825
NM_001848.2(COL6A1):c.2067-6A>G rs113876477
NM_001848.2(COL6A1):c.2157G>C (p.Pro719=) rs377152990
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890
NM_001848.2(COL6A1):c.2352C>T (p.Pro784=) rs377558756
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) rs149910296
NM_001848.2(COL6A1):c.2464+9C>T rs368651226
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) rs146662894
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=) rs540554122
NM_001848.2(COL6A1):c.2694G>A (p.Thr898=) rs372931456
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) rs139018148
NM_001848.2(COL6A1):c.273G>A (p.Leu91=) rs759821375
NM_001848.2(COL6A1):c.2751C>T (p.Asn917=) rs767760988
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.2820G>A (p.Leu940=) rs111451684
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2911G>A (p.Val971Met) rs769795690
NM_001848.2(COL6A1):c.3034C>T (p.Leu1012=) rs150509473
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.409C>G (p.Leu137Val) rs139648899
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) rs373486149
NM_001848.2(COL6A1):c.424G>C (p.Val142Leu) rs144282452
NM_001848.2(COL6A1):c.609C>T (p.Ile203=) rs369590506
NM_001848.2(COL6A1):c.624G>A (p.Thr208=) rs573282005
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
NM_001848.2(COL6A1):c.669C>T (p.Asp223=) rs552000247
NM_001848.2(COL6A1):c.678G>A (p.Glu226=) rs1370178953
NM_001848.2(COL6A1):c.69G>A (p.Pro23=) rs149741299
NM_001848.2(COL6A1):c.717+9C>T rs183868804
NM_001848.2(COL6A1):c.813A>G (p.Arg271=) rs748184568
NM_001848.2(COL6A1):c.981C>T (p.Ile327=) rs138401567
NM_001848.2(COL6A1):c.984C>T (p.Asp328=) rs781038607
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) rs373948031
NM_001848.2(COL6A1):c.996C>T (p.Gly332=) rs11702055
NM_001848.2(COL6A1):c.997G>A (p.Val333Met) rs201525908

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