ClinVar Miner

List of variants in gene DSG2 reported as likely pathogenic for not provided

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Total variants: 24
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HGVS dbSNP
NM_001943.4(DSG2):c.1015delG (p.Glu339Lysfs) rs794728094
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848
NM_001943.5(DSG2):c.152G>C (p.Trp51Ser) rs397516702
NM_001943.5(DSG2):c.1938del (p.Ile647fs)
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter) rs794728097
NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter) rs1064793983
NM_001943.5(DSG2):c.2358del (p.Asp787fs) rs1064793103
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.5(DSG2):c.2595dup (p.Ala866fs) rs1598826658
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs)
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.618_625del (p.Tyr207fs) rs1598811348
NM_001943.5(DSG2):c.667del (p.Thr223fs) rs1555671335
NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs) rs794728100
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201

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