ClinVar Miner

List of variants studied for cardiomyopathy by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_000256.3(MYBPC3):c.2414-1G>A rs863224899
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_000363.5(TNNI3):c.508C>G (p.Arg170Gly) rs727503504
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) rs863224904
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) rs775441984
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_022455.5(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_133378.4(TTN):c.[38532C>A];[52301A>G]
NM_133378.4(TTN):c.[98049dupA];[99250C>T]
NM_170707.4(LMNA):c.810+1G>C rs267607632

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