ClinVar Miner

List of variants in gene LPIN2 reported as benign for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.*685T>A rs607549 0.71526
NM_001375808.2(LPIN2):c.*2934C>T rs7980 0.50276
NM_001375808.2(LPIN2):c.1168+44T>C rs3826637 0.31167
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_001375808.2(LPIN2):c.*3068A>T rs1985 0.24248
NM_001375808.2(LPIN2):c.*3139A>G rs1164 0.18839
NM_001375808.2(LPIN2):c.*657A>C rs16944040 0.16453
NM_001375808.2(LPIN2):c.*2493C>G rs8091401 0.08828
NM_001375808.2(LPIN2):c.*1052T>C rs59566682 0.06708
NM_001375808.2(LPIN2):c.*501T>C rs35176958 0.05856
NM_001375808.2(LPIN2):c.*2923C>T rs202079191 0.04421
NM_001375808.2(LPIN2):c.*2946G>A rs4781 0.03480
NM_001375808.2(LPIN2):c.*557G>A rs112795993 0.03331
NM_001375808.2(LPIN2):c.-10+1342C>G rs59096963 0.03286
NM_001375808.2(LPIN2):c.-10+1343C>G rs58940048 0.03285
NM_001375808.2(LPIN2):c.1456+29A>G rs16944068 0.03261
NM_001375808.2(LPIN2):c.*2241T>C rs16944033 0.03080
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
NM_001375808.2(LPIN2):c.*950A>C rs3810065 0.01773
NM_001375808.2(LPIN2):c.*1502G>A rs113346639 0.01434
NM_001375808.2(LPIN2):c.*99C>T rs143728428 0.01403
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_001375808.2(LPIN2):c.*2822C>T rs73375246 0.00916
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_001375808.2(LPIN2):c.*1691A>G rs112588494 0.00863
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_001375808.2(LPIN2):c.*3015T>C rs14916 0.00541
NM_001375808.2(LPIN2):c.*1622T>C rs111366726 0.00538
NM_001375808.2(LPIN2):c.*1082G>A rs149858117 0.00508
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_001375808.2(LPIN2):c.2174+17_2174+18insAT rs368009098 0.00452
NM_001375808.2(LPIN2):c.120T>C (p.Asp40=) rs143261167 0.00243
NM_001375808.2(LPIN2):c.2327+11G>A rs148930095 0.00240
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_001375808.2(LPIN2):c.*797T>G rs3810064 0.00180
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001375808.2(LPIN2):c.*699A>G rs145046223 0.00092
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_001375808.2(LPIN2):c.*637G>A rs118142692 0.00058
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.289-16C>T rs759180126 0.00010
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.2088-11C>T rs553605811 0.00005
NM_001375808.2(LPIN2):c.1722C>T (p.Ser574=) rs144282017 0.00001
NM_001375808.2(LPIN2):c.*723A>G rs76325993
NM_001375808.2(LPIN2):c.*947dup rs3840906
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.2328-6dup
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.699-13_699-12dup rs775605400

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